French national reference center for inherited metabolic diseases in children and adults (MAMEA)
The MAMEA rare diseases reference center takes care of children and adults with inherited metabolic diseases. For several years, it has been developing the most recent drug and dietetic treatments for diseases caused by intoxication by proteins and sugars, energy diseases, and enzyme replacement therapies, substrate reduction therapies for lysosomal diseases, various therapies for other metabolic diseases.
The Necker site works in close collaboration with the competence centers, in particular Rouen and Caen, other reference centers and patient associations throughout the country, the G2M healthcare network and European centers (métabERN).
Contact us
Pediatrics
Secretariat of professor de Lonlay
Phone. 01 44 49 48 52
> Send an email
Secretariat of professor Schiff and doctor Pichard
Phone. 01 44 49 55 21
> Send an email
Secretariat of doctor Brassier and doctor Bouchereau
Phone. 01 44 49 47 31
> Send an email
Secretariat of doctor Arnoux
Phone. 01 44 49 40 23
> Send an email
Adult
Secretariat of doctor Servais
Phone. 01 44 49 54 13
> Send an email
Secretariat of doctor Dao
Phone. 01 44 49 54 58
> Send an email
In case of emergency
- Pathologies and recommendations
- Metabolic pathways and pathologies
- Reference center medical team
- Reference center paramedical team
- Reference center administrative team
- Therapeutic patient education
- National diagnostic and care protocols (PNDS)
- Main current research studies
- Education
- Publications
- Patient associations
- National network map
- Events
- Press review
Inherited metabolic diseases (IMD) are the consequence of the genetic deficit of an enzyme or a transporter involved in numerous metabolic pathways.
They are classified into 3 groups according to a common pathophysiology:
- Diseases by poisoning
- Diseases by energy deficit
- Diseases of complex molecules
IMDs are individually very rare (frequency of 1/5,000 to 1/500,000) but nevertheless remain very numerous since it is admitted that of the 4,000 to 6,000 potentially existing diseases, only around 500 are currently identified with new descriptions of diseases that are sometimes difficult to classify.
The first two groups are also often referred to as disorders of intermediary metabolism, involving the metabolism of proteins, sugars, lipids and it is these diseases that are at risk for acute decompensation.
These « metabolic distresses » can present themselves at any age, in different forms.
It is very important to mention them because most are treatable, the treatment saves life in the short term and changes the prognosis, especially neurological, in the medium and longer term.
Beyond the diagnostic and therapeutic approach which are often mixed and complex in view of the rarity of pathologies, it is essential to think about it and know how to implement the first simple measures before entrusting the patient to experienced teams, within reference and competence centers.
IMDs represent a challenge not only for the patient through care, particularly in the event of a metabolic emergency, but also for the family through genetic counseling and prenatal diagnosis on an individual scale.
At the collective level, the question of extending neonatal screening for certain IMDs arises, in particular thanks to current technical possibilities, better knowledge of the natural history of diseases and the development of specific therapies, this consideration being guided by ethics.
Diseases by poisoning
This group includes diseases of the intermediary metabolism which lead to acute or progressive intoxication by the accumulation of toxic compounds upstream of the enzymatic block.
This group includes aminoacidopathies (phenylketonuria, leukinosis, homocystinuria, tyrosinemia, etc.), organic acidurias (mathylmalonic, propionic, isovaleric aciduria, etc.), urea cycle deficits and related (OTC deficiency, lysinuric protein intolerance, etc.), sugar intolerances (galactosemia, hereditary fructose intolerance, etc.).
All of these conditions, with a few exceptions, share some common characteristics.
They do not interfere with embryo-foetal development and occur after a free interval after birth with clinical signs of acute (vomiting, lethargy, coma, multivisceral failure …) or chronic (anorexia, growth retardation, psychomotor retardation, cardiomyopathy …) intoxication.
They are likely to decompensate in « metabolic crises », recurrently during catabolic events (fever, intercurrent infection, fasting…) or when ingesting « toxic » foods.
Their diagnosis is based on blood and urine amino acid chromatography, urine organic chromatography and acylcarnitine profile. Most of these diseases can be treated by the purification of toxic compounds in emergency situations (hemodialysis, purifying drugs, etc.) and by special restrictive diets the rest of the time, for life.
Diseases by energy deficit
This group includes inherited metabolic diseases with symptoms linked, at least in part, to the failure to produce, use or store energy, involving the liver, striated muscle (peripheral and cardiac), brain, retina … high energy consumers.
It can be schematically divided into 2, distinguishing the defect of mitochondrial and cytoplasmic energy metabolism.
Mitochondrial energy deficits are the most severe and generally untreatable.
They include congenital lactic acidosis (mitochondrial pyruvate transporter deficiency, pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency and Krebs cycle deficits), respiratory chain deficits (involving the 5 complexes of the respiratory chain but also mitochondrial transporters of energy molecules and the synthesis of Q10 coenzyme ), fatty acid oxidation deficits and metabolism of ketone bodies.
Cytoplasmic energy deficits are generally less severe.
They include deficits in the metabolism of glycolysis (pentose pathway, etc.) and of glycogen (gluconeogenesis and glycogenolysis with hepatic and muscular glycogenoses), hyperinsulinisms, disorders of creatine metabolism.
Common warning signs are hypoglycemia, hepatomegaly, lactic acidosis, myo (cardio) pathy, growth retardation, hypotonia or various neurological symptoms, sudden death in childhood.
Certain mitochondrial deficits and deficits on the pentose pathway can interfere with embryo-fetal development and lead to dysmorphia, dysplasias and malformations.
Diagnosis is difficult and is based on functional explorations (fasting tests, etc.), enzymatic assays requiring cell cultures (skin, muscle biopsies, etc.) and on molecular analyzes.
Diseases of complex molecules
This group concerns intracellular organelles (lysosome, peroxisome, etc.) and groups together diseases that disrupt the synthesis or the catabolism of complex molecules within them: lysosomal and peroxisomal diseases, deficits in protein glycosylation (CDG syndromes) , deficits in the endogenous synthesis of cholesterol and bile acids as well as other deficits involving the trafficking of complex molecules.
Symptoms are permanent, progressive and independent of intercurrent events or diet since they concern structural proteins and not those involved in the pathways of intermediary metabolism.
These diseases are polymorphic, multiorgan, often with neurological expression, which can lead to damage as early as fetal life (foeto-placental hydrops, brain malformations, polymalformative syndromes, etc.);
The diagnosis is based on specific enzymatic assays which may be based on urine screening tests and the highlight of mutations in molecular biology.
Most of these diseases are not treatable, but there is currently enzyme replacement therapy for some of them and a large area of research devoted to the development of new therapies.
Energy metabolism
Mitochondrial diseases
- Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
- Coenzyme Q10 deficiency
- Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
- Kearns-Sayre syndrome
- Pearson Syndrome
- MELAS
- MERRF
- Leber’s hereditary optic neuropathy
- NARP syndrome
- Maternal-transmitted diabetes-deafness
- Isolated anomaly of an oxidative phosphorylation complex
- « Uncharacterized » mitochondrial oxidative phosphorylation disorder
Lipoic acid biosynthesis defect
Creatine deficiency
- Guanidinoacetate methyltransferase deficiency
- L-arginine deficiency: glycine amidinotransferase
- X-linked creatine transporter deficiency
Disorder of fatty acid oxidation and ketone body metabolism
- Ketolysis disorder
- Beta-ketothiolase deficiency
- Succinyl-CoA deficiency: 3-ketoacid CoA transferase
- Disorder of fatty acid oxidation and ketogenesis
- Mitochondrial trifunctional protein deficiency
- 3-hydroxy-3-methylglutaryl-CoA-Lyase deficiency
- 3-hydroxy-3-methylglutaryl-CoA synthetase deficiency
- Acyl-CoA dehydrogenase deficiency of medium chain fatty acids
- Multiple acyl-CoA dehydrogenase deficiency
- Short-chain fatty acid acyl-CoA dehydrogenase deficiency
- Very long chain fatty acid acyl-CoA dehydrogenase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency in long chain fatty acids
- Short chain fatty acid 3-hydroxylacyl-CoA dehydrogenase deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine palmitoyltransferase 1A deficiency
- Primary systemic carnitine deficiency
- Carnitine-acylcarnitine translocase deficiency
- Malonic aciduria
- Acyl-CoA dehydrogenase deficiency 9
- Monocarboxylate transporter 1 deficiency Abnormal pyruvate metabolism
- Pyruvate dehydrogenase deficiency
- Red blood cell pyruvate kinase deficiency
- Krebs cycle anomaly
- Oxoglutaric aciduria
Amino acid metabolism
Amino acid absorption and transport disorder
- Cystinuria
- Dicarboxylic hyperaminoaciduria
- Lysinuric protein intolerance
- Hyperdibasic aminoaciduria type 1
- Hypotonia-cystinuria syndrome
- Hartnup disease
- Iminoglycinuria
Urea cycle metabolism and ammonia detoxification disorder
- Ornithine transcarbamylase deficiency
- Argininemia
- Argininosuccinic aciduria
- Carbamoyl-phosphate synthetase 1 deficiency
- Citrullinaemia type I
- Citrullinaemia type II
- Neonatal intrahepatic cholestasis due to citrine deficiency
- Hyperornithinaemia-hyperammonemia-homocitrullinuria syndrome
- N-acetylglutamate synthase deficiency
- Hyperinsulinism syndrome and hyperammonemia
- VA carbonic anhydrase deficiency
Metabolism disorders of the cycle of methionine, sulfur amino acids and cobalamin
- Classic homocystinuria due to cystathionine beta-synthase deficiency / Orphanet link
- Sulphite oxidase deficiency
- Homocystinuria without methylmalonic aciduria
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency+ MTHF
- Methylcobalamin deficiency type cblE
- Methylcobalamin deficiency type cblG
- Methylcobalamin deficiency type cblDv1
- Hypermethioninaemia due to adenosine kinase deficiency
- Hypermethioninaemia due to glycine N-methyltransferase deficiency
- Methylmalonic acidemia with homocystinuria type cblC / Orphanet link
- Methylmalonic acidemia with homocystinuria type cblD / Orphanet link
- Methylmalonic acidemia with homocystinuria type cblF / Orphanet link
- Methylmalonic acidemia with homocystinuria type cblJ / Orphanet link
- Methylmalonic acidemia with homocystinuria type cblX / Orphanet link
- Methylmalonic acidemia sensitive to vitamin B12 type cblA
- Methylmalonic acidemia sensitive to vitamin B12 type cblB
- Methylmalonic acidemia sensitive to vitamin B12 type cblDv2
- Formiminoglutamic aciduria
- Neurodegenerative syndrome due to cerebral folate transport deficit
- Biotin-Thiamine-Responsive Basal Ganglia Disease
- Encephalopathy due to thiamine pyrophosphokinase deficiency
Histidine metabolism disorder
Proline metabolism disorder
Ornithine metabolism disorder / Orphanet link
- Gyrate atrophy of choroid and retina
Peptide metabolism disorder
- Carnosinaemia
- Prolidase deficiency
- Homocarnosinosis
Phenylalanine metabolism disorder / Orphanet link
- Classical phenylketonuria
- Permanent moderate hyperphenylalaninaemia
- Atypical phenylketonuria
- Embryo-fetopathy associated with maternal PKU
Tyrosine metabolism disorder
- Alcaptonuria
- Hawkinsinuria
- Tyrosinemia type 1
- Tyrosinemia type 2
- Tyronsinemia type 3
Serine or glycine metabolism disorder
- Sacrosinemia
- Hyperglycinemia without ketosis
- Neurometabolic disease due to serine deficiency
- 3-phosphoglycerate dehydrogenase deficiency
- 3-phosphoglycerate dehydrogenase deficiency, infantile / juvenile form
Gamma-glutamyl cycle disorder
- Glutathione synthetase deficiency
- 5-oxopolinase deficiency
- Gamma-glutamyl transpeptidase deficiency
- Gamma-glutamylcysteine synthetase deficiency
Branched-chain amino acid metabolism disorder
- Leukinosis / Orphanet link
- Methylmalonate semialdehyde dehydrogenase deficiency
- Branched-chain ketoacid kinase dehydrogenase deficiency
Tryptophan metabolism disorder
- Hydroxykynureninuria
Lysine and hydroxylysine metabolism disorder
- Hyperlysinemia
- Sucropinuria
- 2-Aminoadipic 2-oxoadipic aciduria
- Hydroxylysinuria
Glutamine metabolism disorder
Organic aciduria
- L-2-hydroxyglutaric aciduria
- D-2-hydroxyglutaric aciduria
- D, L-2-hydroxyglutaric aciduria
- Glutaryl-CoA dehydrogenase deficiency
- Canavan disease
- Aminoacylase 1 deficiency
- HSD10 disease
- Isovaleric acidemia
- Biotinidase deficiency / Orphanet link
- Holocarboxylase synthetase deficiency
- Beta-ketothiolase deficiency
- 3-hydroxyisobutyric aciduria
- 3-hydroxy-3-methylglutaric aciduria
- 3-methylcrotonyl-CoA carboxylase deficiency
- Propionic acidemia / Orphanet link
- 2-methylbutyryl-CoA dehydrogenase deficiency
- Isobutyryl-CoA dehydrogenase deficiency
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Combined malonic and methylmalonic acidemia
- 3-methylglutaconic aciduria
- Barth syndrome
- 3-methylglutaconic aciduria type 1
- 3-methylglutaconic aciduria type 3
- 3-methylglutaconic aciduria type 4
- MEGDEL syndrome
- 3-methylglutaconic aciduria type 7
Methylmalonic acidemia without homocystinuria / Orphanet link
- Vitamin B12 unresponsive methylmalonic acidemia
- Vitamin B12 type mut- unresponsive isolated methylmalonic acidemia
- Vitamin B12 type mut0 unresponsive methylmalonic acidemia
- Vitamin B12 responsive methylmalonic acidemia
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- Gamma-aminobutyric acid transaminase deficiency
Carbohydrate metabolism
- Carbohydrate metabolism disorder
- Fructose-1,6-diphosphatase deficiency
- Phosphoenolpyruvate carboxykinase deficiency
- Pyruvate carboxylase deficiency
- Isolated glycerol kinase deficiency
- Glycogenosis due to a depleting enzyme deficiency (type III glycogenosis)
- Glycogenosis due to branching enzyme deficiency
- Glycogenosis due to muscle glycogen phosphorylase deficiency
- Glycogenosis due to hepatic phosphorylase deficiency
- Glycogenosis due to muscle phosphofructokinase deficiency
- Glycogenosis due to glucose-6-phosphatase deficiency (type I glycogenosis) / Orphanet link
- Glycogenosis due to glucose-6-phosphatase type a deficiency
- Glycogenosis due to glucose-6-phosphatase type b deficiency
- Glycogenosis due to muscle aldolase A deficiency
- Glycogenosis due to phosphoglycerate kinase 1 deficiency
- Glycogenosis due to GLUT2 deficiency
- Glycogenosis due to lactate dehydrogenase deficiency
- Glycogenosis due to phosphoglycerate mutase deficiency
- Glycogenosis due to muscle beta-enolase deficiency
- Glycogenosis due to glycogenin deficiency
- Glycogenosis due to hepatic glycogen synthase deficiency (type 0 glycogenosis)
- Glycogenosis due to cardiac and muscle glycogen synthase deficiency
- Triose-phosphate isomerase deficiency
- Phosphoglucose isomerase deficiency
- Hyperinsulinism due to glucokinase deficiency
- Hereditary fructose intolerance
- Galactokinase deficiency
- Galactose epimerase deficiency
- Classical galactosemia
- D-glyceric aciduria
- Primary hyperoxaluria
- Congenital sucrase-isomaltase deficiency
- Congenital lactase deficiency
- Glucose-galactose malabsorption
- GLUT1 deficiency
- Transaldolase deficiency
Lysosomal metabolism
Neuronal ceroid lipofuscinosis
- Adult neuronal ceroid lipofuscinosis
- Infantile neuronal ceroid lipofuscinosis
- Juvenile neuronal ceroid lipofuscinosis
- Congenital neuronal ceroid lipofuscinosis
- Late infantile neuronal ceroid lipofuscinosis
- Acid phosphatase deficiency
Disorder of lysosomal amino acid transport
- Cystinosis
- Free sialic acid overload disease
Mucopolysaccharidosis
- Mucopolysaccharidosis type 6
- Mucopolysaccharidosis type 7
- Mucopolysaccharidosis type 2
- Mucopolysaccharidosis type 1 / Orphanet link
- Mucopolysaccharidosis type 3
- 3A
- 3B
- 3C
- 3D
- Mucopolysaccharidosis type 4
- 4A
- 4B
- Hyaluronidase deficiency
Sphingolipidosis
- Multiple sulfatase deficiency
- Farber’s disease
- Krabbe disease
- Fabry disease / Orphanet link
- Metachromatic leukodystrophy
- Gaucher disease / Orphanet link
- Niemann-Pick disease type A
- Niemann-Pick disease type B
- Niemann-Pick disease type C / Orphanet link
- Lysosomal acid lipase deficiency
- Niemann-Pick disease type E
- Prosaposin deficiency
- Gangliosidosis at GM1
- Gangliosidosis at GM2
- Mucolipidosis type II
- Mucolipidosis type III
- Alpha-mannosidosis
- Aspartylglucosaminuria
- Beta-mannosidosis
- Fucosidosis
- Galactosialidosis
- Alpha-N-acetylgalactosaminidase deficiency
- Sialidosis type 1
- Sialidosis type 2
- Sialuria
- Wolman disease
- Cholesterol ester storage disease
Glycogen storage diseases
- Glycogenosis due to acid maltase deficiency
- Glycogenosis due to LAMP-2 deficiency
Peroxysomal metabolism
- Neonatal adrenoleukodystrophy
- Infantile Refsum Disease
- Refsum disease / Orphanet link
- Acatalasemia
- Glutaric acidemia type 3
- Type 4 congenital bile acid synthesis deficiency
- Acyl-CoA oxidase deficiency
- X-linked adrenoleukodystrophy / Orphanet link
- Bifunctional enzyme deficiency
- Primary hyperoxaluria type 1
- Rhizomelic punctate chondrodysplasia
Sterols and lipoproteins metabolism
Bile acid synthesis defect with cholestasis and malabsorption
- Cerebrotendinous xanthomatosis / Orphanet link
- Congenital bile acid synthesis defect type 4
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- Lathosterolosis
- Smith-Lemli-Opitz Syndrome / Orphanet Link
- Dessterolosis
- Mevalonic aciduria / Orphanet link
Rare dyslipidemia
- Rare hyperlipidemia
- Combined hyperlipidemia
- Hyperlipoproteinemia type 3
- Major hypertriglyceridemia
- Hyperalphalipoproteinemia
- LCAT deficiency
- Apolipoprotein A-I deficiency
- Tangier disease
Hypobetalipoproteinemia
- Abetalipoproteinemia
- Chylomicron retention disease
- Sitosterolemia
Other lipidosis
- Sjögren-Larsson syndrome
- Dorfman-Chanarin disease
Proteins glycosylation
- N-glycosylation disorder (CDG Ia – CDG X) / N-glycosylation disorder on Orphanet
- O-glycosylation disorder
- O-xylosylglycan synthesis disorder
- Multiple exostosis disease
- Musculo-contractural type Ehlers-Danlos syndrome
- Progeroid-type Ehlers-Danlos syndrome
- Multiple disorders of glycosylation
- Golgi oligomeric complex deficiency
Purines and pyrimidines metabolism
Hypoxanthine-guanine phosphoryl transferase deficiency
- Lesch-Nyhan syndrome / Lesch-Nyhan syndrome on Orphanet
- Partial hypoxanthine guanine phosphoribosyltransferase deficiency
Pyrimidine metabolism disorder
- Hereditary orotic aciduria
- Dihydropyrimidine dehydrogenase deficiency
- Dihydropyrimidinuria
- Beta-ureidopropionase deficiency
Neurotransmission
Neurotransmitter abnormality
- Monoamine oxidase A deficiency
- Dihydropteridine reductase deficiency / Dihydropteridine reductase deficiency on Orphanet
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- GTP cyclohydrolase I deficiency
- Dopamine beta hydroxylase deficiency
- Aromatic amino acid decarboxylase deficiency
- Tyrosine hydroxylase deficiency
- Dopamine transporter deficiency
- 4-hydroxybutyric aciduria
- Gamma-aminobutyric acid transaminase deficiency
- B6 and B9-dependent epilepsy due to antiquitin deficiency
- Pyridoxal phosphate-responsive seizures
- Adenylosuccinate lyase deficiency
- Adenosine phosphoribosyltransferase deficiency
Pediatricians
Head of the reference center
Pr Pascale de Lonlay
MD, PhD
Pr Manuel Schiff
MD,PhD
Dr Jean-Baptiste Arnoux
MD
Dr Anaïs Brassier
MD
Dr Juliette Bouchereau
Dr Samia Pichard
MD
Dr Claire Marine Berat
Dr Lucile Altenburger
Adult physicians
Dr Aude Servais
MD, PhD
Dr Myriam Dao
Biologists
Pr Jean François Benoist
PharmD, PhD
Pr Chris Ottolenghi
MD, PhD
Pr Robert Barouki
MD, PhD
Dr Odile Rigal
Dr Clément Pontoizeau
Dr Apolline Imbard
PharmD, PhD
Dr Allel Chabli
MD
Dr Catherine Caillaud
MD, PhD
Dr Sylvia Sanquer
PhD
Dr Edouard Le Guillou
PharmD
Dietitians
Murielle Assoun
Claire Belloche
Sandrine Dubois
Florence Serceau
Pierre Buret
Soraya Shafieivand
Sabine Dewulf
Bénédicte Samba
Psychologists
Valérie Barbier
Clarisse Duchon
Occupational therapists
Virginie Germa
Élodie Deladrière
Psychomotor therapist
Manon Tessier
Social worker
Virginie Leboeuf
Young children educator
Manuella Bayart
Physiotherapist masseuse
Marion Maquet
Secretaries
Delphine Mondain
Malika Boucha
Nathalie Madouri
Sophie Bustos
Yann Kobylko-Baybaud
Corinne Rochette
Nathalie Mandane
Isabelle Madelaine
- Program title : « My health step by step » therapeutic education program
Contact : Dr Manuel SCHIFF (Send an email)
Location : MaMEA reference center for inherited metabolic diseases, Necker-Enfants malades hospital, Paris
Additional information : Children from 5 years old and adults - Program title: Therapeutic education program for inherited metabolic diseases: Urea cycle disorders, organic aciduria, leukemia and glutaric aciduria type I
Contact : Dr Pascale de LONLAY (Send an email)
Location: MaMEA reference center for inherited metabolic diseases, Necker-Enfants malades hospital, Paris
Additional information : Children from 0 to 18 years old and their parents - Program title: Therapeutic education program for inherited metabolic diseases: PDH deficiency, Glut-1 deficiency and mitochondrial cytopathy
Contact : Dr Pascale de LONLAY (Send an email)
Location: MaMEA reference center for inherited metabolic diseases, Necker-Enfants malades hospital , Paris
Additional information : Children up to 18 years old and their parents - Program title : Therapeutic education program for inherited metabolic diseases: Fatty acid oxidation disorders
Contact : Dr Pascale de LONLAY (Send an email)
Location : MaMEA reference center for inherited metabolic diseases, Necker-Enfants malades hospital, Paris
Additional information : Children up to 18 years old and their parents - Program title : Therapeutic education program for inherited metabolic diseases : Galactosemia and fructosemia
Contact : Dr Pascale de LONLAY (Send a email)
Location : MaMEA reference center for inherited metabolic diseases, Necker Enfants-malades hospital, Paris
Additional information : Children from 0 to 18 years old and their parents - Program title : Therapeutic education program for inherited metabolic diseases: Glycogen storage disease and gluconeogenesis disorders
Contact : Dr Pascale de LONLAY (Send a email)
Location : MaMEA reference center for inherited metabolic diseases, Necker-Enfants malades hospital, Paris
Additional information : Children up to 18 years old and their parents - Program title: Therapeutic education program for inherited metabolic diseases with dietary therapy : Hyperinsulinism
Contact : Dr Pascale de LONLAY (Send an email)
Location : MaMEA reference center for inherited metabolic diseases, Necker Enfants-malades hospital, Paris
Additional information : Children up to 18 years old and their parents - Program title : Therapeutic education program for inherited metabolic diseases: Phenylketonuria, tyrosinemia, homocystinuria
Contact : Dr Pascale de LONLAY (Send an email)
Location : MaMEA reference center for inherited metabolic diseases, Necker Enfants-malades hospital, Paris
Additional information : Children from 0 to 18 years old and their parents
- PNDS Maple syrup urine disease (2021)
- PNDS Hyperinsulinism (2020)
- PNDS Organic acidurias (2020)
- PNDS Phenylketonuria (2018)
- PNDS Mucopolysaccharidosis (2016)
- PNDS Pompe disease (2016)
- PNDS Gaucher disease (2015)
- PNDS Prader-Willi syndrome (2012)
- PNDS Fabry disease (2010)
- PNDS mitochondrial fatty acid oxidation disorders (ongoing)
- PNDS McArdle disease and type 3 glycogenosis disease in collaboration with the neuromuscular sector (ongoing)
Study of rhabdomyolysis and metabolic decompensations linked to fever and fasting. Link to inflammation. Immunometabolism.
FP7-Health-2012-Innovation-1: collaborative study (Liverpool, Slovakia, France) on clinical development of Nitisinone for Alcaptonuria
Inter-university diploma in hereditary metabolic diseases
Université de Paris
2021
– Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, Malou Le Corronc Nuzum, Amélie Blondel, Hugo Debruge, Aline Cano, Brigitte Chabrol et al.
J Inherit Metab Dis, 2021 Mar, PMID: 32929747 DOI: 10.1002/jimd.12314
– Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Florence Rigaudière, Eliane Delouvrier, Jean-François Le Gargasson, Paolo Milani, Hélène Ogier de Baulny, Manuel Schiff
Doc Ophthalmol, 2021 Jun, PMID: 33392894 DOI: 10.1007/s10633-020-09802-y
– Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.
Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao et al.
JIMD Rep, 2021 Mar 6, PMID: 33977036 PMCID: PMC8100389 DOI: 10.1002/jmd2.12207
– Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, Manfred Boehm, Emmanuelle Bourrat, Aline Cano, Brigitte Chabrol, Claudine Cosson, José Luís Dapena Díaz et al.
Genet Med, 2021 Sep, PMID: 34040193 PMCID: PMC8463480 DOI: 10.1038/s41436-021-01200-2
– Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Yamina Hamel, François-Xavier Mauvais, Marine Madrange, Perrine Renard, Corinne Lebreton, Ivan Nemazanyy, Olivier Pellé, Nicolas Goudin, Xiaoyun Tang, Mathieu P Rodero, Caroline Tuchmann-Durand, Patrick Nusbaum, David N Brindley, Peter van Endert, Pascale de Lonlay
Cell Rep Med, 2021 Aug 17, PMID: 34467247 PMCID: PMC8385327 DOI: 10.1016/j.xcrm.2021.100370
– Liver and brain differential expression of one-carbon metabolism genes during ontogenesis.
Apolline Imbard, Leslie Schwendimann, Sophie Lebon, Pierre Gressens, Henk J Blom, Jean-François Benoist
Sci Rep, 2021 Oct 26, PMID: 34702858 PMCID: PMC8548596 DOI: 10.1038/s41598-021-00311-9
– Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier
Orphanet J Rare Dis, 2021 Dec 14, PMID: 34906190 PMCID: PMC8670257 DOI: 10.1186/s13023-021-02134-3
– Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady et al.
Brain, 2021 Dec 27, PMID: 34957489 DOI: 10.1093/brain/awab484
– A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
Elise Lebigot, Manuel Schiff, Marie-Pierre Golinelli-Cohen
Biomedicines, 2021 Aug 10, PMID: 34440194 PMCID: PMC8393393 DOI: 10.3390/biomedicines9080989
– OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Stephanie Gobin-Limballe, Chris Ottolenghi, Fabien Reyal, Jean-Baptiste Arnoux, Maryse Magen, Marie Simon, Anaïs Brassier, Fabienne Jabot-Hanin, Pascale De Lonlay et al.
J Inherit Metab Dis, 2021 Sep, PMID: 34014569 DOI: 10.1002/jimd.12404
– An Unusual Peak in a Common Clinical Presentation.
Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Apolline Imbard, Ivana Dabaj, Abdellah Tebani
Clin Chem, 2021 Apr 29, PMID: 33928370 DOI: 10.1093/clinchem/hvab012
– Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.
Daniele Mandia, Natalia Shor, Jean-François Benoist, Yann Nadjar
JAMA Neurol, 2021 Apr 1, PMID: 33427863 DOI: 10.1001/jamaneurol.2020.4911
2020
– Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.
Brassier A, Krug P, Lacaille F, Pontoizeau C, Krid S, Sissaoui S, Servais A, Arnoux JB, Legendre C, Charbit M, Scemla A, Francoz C, Benoist JF, Schiff M, Mochel F, Touati G, Broué P, Cano A, Tardieu M, Querciagrossa S, Grévent D, Boyer O, Dupic L, Oualha M, Girard M, Aigrain Y, Debray D, Capito C, Ottolenghi C, Salomon R, Chardot C, de Lonlay P. J Inherit Metab Dis. 2020 Mar;43(2):234-243. doi: 10.1002/jimd.12174. Epub 2020 Feb 11. PMID: 31525265
– Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort.
Wicker C, Roda C, Perry A, Arnoux JB, Brassier A, Castelle M, Servais A, Donadieu J, Bouchereau J, Pigneur B, Labrune P, Ruemmele FM, de Lonlay P. Mol Genet Metab Rep. 2020 Apr 9;23:100581. doi: 10.1016/j.ymgmr.2020.100581. eCollection 2020 Jun. PMID: 32300528 Free PMC article.
– Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Pontoizeau C, Roda C, Arnoux JB, Vignolo-Diard P, Brassier A, Habarou F, Barbier V, Grisel C, Abi-Warde MT, Boddaert N, Kuster A, Servais A, Kaminska A, Hennequin C, Dupic L, Lesage F, Touati G, Valayannopoulos V, Chadefaux-Vekemans B, Oualha M, Eisermann M, Ottolenghi C, de Lonlay P. Mol Genet Metab. 2020 Jun;130(2):110-117. doi: 10.1016/j.ymgme.2020.03.003. Epub 2020 Mar 19. PMID: 32273051
– Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. J Inherit Metab Dis. 2020 Sep 14. doi: 10.1002/jimd.12314. Online ahead of print. PMID: 32929747
– Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
Tuchmann-Durand C, Thevenet E, Moulin F, Lesage F, Bouchereau J, Oualha M, Khraiche D, Brassier A, Wicker C, Gobin-Limballe S, Arnoux JB, Lacaille F, Wicart C, Coat B, Schlattler J, Cisternino S, Renolleau S, Secretan PH, De Lonlay P. JIMD Rep. 2020 Jan 3;51(1):25-29. doi: 10.1002/jmd2.12090. eCollection 2020 Jan. PMID: 32071836 Free PMC article.
– Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard M, Douillard C, Debray D, Lacaille F, Schiff M, Vuillaumier-Barrot S, Dupré T, Fabre M, Damaj L, Kuster A, Torre S, Mention K, McLin V, Dobbelaere D, Borgel D, Bauchard E, Seta N, Bruneel A, De Lonlay P. J Inherit Metab Dis. 2020 Jul 17. doi: 10.1002/jimd.12289.
– Long-Term Follow-up of a Child With Putative Remethylation Disorder Who Presented With Severe Anemia as a Neonate.
Zühre Kaya, Manuel Schiff, Jean-François Benoist
J Pediatr Hematol Oncol, 2020 May, PMID: 31789780 DOI: 10.1097/MPH.0000000000001689
– Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Alessandra Pennisi, Bruno Maranda, Jean-François Benoist, Véronique Baudouin, Odile Rigal, Samia Pichard, René Santer, Francesca Romana Lepri, Antonio Novelli, Hélène Ogier de Baulny, Carlo Dionisi-Vici, Manuel Schiff
J Inherit Metab Dis, 2020 May, PMID: 31816104 DOI: 10.1002/jimd.12203
– Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
Caroline Tuchmann-Durand,Eloise Thevenet,Florence Moulin,Fabrice Lesage,Juliette Bouchereau,Mehdi Oualha,Diala Khraiche,Anaïs Brassier,Camille Wicker,Stéphanie Gobin-Limballe,Jean-Baptiste Arnoux,Florence Lacaille,Clotilde Wicart,Bruno Coat,Joel Schlattler,Salvatore Cisternino,Sylvain Renolleau,Philippe-Henri Secretan,Pascale De Lonlay
JIMD Rep, 2020 Jan 3, PMID: 32071836 PMCID: PMC7012734 DOI: 10.1002/jmd2.12090
– Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.
Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff
Mol Genet Metab Rep, 2020 Mar 17, PMID: 32195121 PMCID: PMC7078522 DOI: 10.1016/j.ymgmr.2020.100579
– [An acidosis not so basic].
Bertrand Lefrère, Emmanuelle Ecochard-Dugelay, Alexis Mosca, Jean-François Benoist, Jean-Pierre Hugot, Apolline Imbard
Ann Biol Clin (Paris), 2020 Aug 1, PMID: 32753366 DOI: 10.1684/abc.2020.1573
– [Biochemical diagnosis of inherited metabolical diseases: metabolic profiles and difficulties for validating methods].
Jean-François Benoist, Roselyne Garnotel, Cécile Acquaviva Bourdain
Ann Biol Clin (Paris), 2020 Oct 1, PMID: 32933895 DOI: 10.1684/abc.2020.1584
– Inherited Disorders of Lysine Metabolism: A Review.
Juliette Bouchereau, Manuel Schiff
J Nutr, 2020 Oct 1, PMID: 33000154 DOI: 10.1093/jn/nxaa112
– Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, Raphaël Lévy, Marco Henneke, Jutta Gärtner, Pelin Teke Kisa, Fatma Ceren Sarioglu, Uluç Yiş, Laura L Konczal, Deepika D Burkardt, Sulin Wu, Pauline Gaignard, Claude Besmond, Laurence Hubert, Marlène Rio, Giulia Barcia, Arnold Munnich, Nathalie Boddaert, Manuel Schiff
J Med Genet, 2020 Nov 16, PMID: 33199448 DOI: 10.1136/jmedgenet-2020-107367
2019
– Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening
Bower, A ; Imbard, A ; Benoist, JF ; Pichard, S ; Rigal, O ; Baud, O & al.
Sci Rep, 2019 Oct 1, PMID: 31575911 PMCID: PMC6773867 DOI: 10.1038/s41598-019-50518-0
– Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
Madeo, A ; Di Rocco, M ; Brassier, A ; Bahi-Buisson, N ; De Lonlay, P ; Ceballos-Picot, I.
Mol Genet Metab, 2019 Jun, PMID: 31182398 DOI: 10.1016/j.ymgme.2019.06.001
– Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy
Rashid, T ; Nemazanyy, I ; Paolini, C ; Tatsuta, T ; Crespin, P ; de Villeneuve, D & al.
EMBO J, 2019 Jan 3, PMID: 30420558 PMCID: PMC6315296 DOI: 10.15252/embj.201899576
– Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
Pascreau, T ; de la Morena-Barrio, ME ; Lasne, D ; Serrano, M ; Bianchini, E ; Kossorotoff, M & al.
J Thromb Haemost, 2019 Nov, PMID: 31271700 DOI: 10.1111/jth.14559
– International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Altassan, R ; Péanne, R ; Jaeken, J ; Barone, R ; Bidet, M ; Borgel, D & al.
J Inherit Metab Dis, 2019 Jan, PMID: 30740725 DOI: 10.1002/jimd.12024
2018
– Long-term liver disease in methylmalonic and propionic acidemias
Imbard, A ; Garcia Segarra, N ; Tardieu, M ; Broué, P ; Bouchereau, J ; Pichard, S & al.
Mol Genet Metab, 2018 Apr, PMID: 29433791 DOI: 10.1016/j.ymgme.2018.01.009
2017
– Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Anikster, Y ; Haack, TB ; Vilboux, T ; Pode-Shakked, B ; Thöny, B ; Shen, N & al.
Am J Hum Genet, 2017 Feb 2, PMID: 28132689 PMCID: PMC5294665 DOI: 10.1016/j.ajhg.2017.01.002
– Neurocognitive profiles in MSUD school-age patients
Bouchereau, J ; Leduc-Leballeur, J ; Pichard, S ; Imbard, A ; Benoist, JF ; Abi Warde, MT & al.
J Inherit Metab Dis, 2017 May, PMID: 28324240 DOI: 10.1007/s10545-017-0033-7
2016
– Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Olsen, RKJ ; Koňaříková, E ; Giancaspero, TA ; Mosegaard, S ; Boczonadi, V ; Mataković, L & al.
Am J Hum Genet, 2016 Jun 2, PMID: 27259049 PMCID: PMC4908180 DOI: 10.1016/j.ajhg.2016.04.006
- Association des familles galactosémiques de France (AFGF)
- Vaincre les maladies lysosomales (VML)
- Association pour la lutte contre l’alcaptonurie (ALCAP)
- Association contre les maladies mitochondriales (AMMI)
- TANGO2 Research Foundation
- Connaître les Syndromes Cérébelleux (CSC)
- Association Francophone des Glycogénoses (AFG)
- Fructos’Amis pour la vie
- Les Feux Follets
- Les enfants du jardin
- Association syndrome de Barth
- Association Noa Luu mon combat
- Lesch-Nyhan action
- Association des Hyperinsulinismes
- Nos anges
- Les p’tits CDG
- No Myolyse
- Nos enfants Menkes
- Association XTRAORDINAIRE
- Ensemble contre la Tyrosinémie
- Alliance Maladies Rares
- AG1-23 Soleil – Acidurie Glutarique de Type 1
- Alliance Sanfilippo
- Association des Patients de la Maladie de Fabry (APMF)
- Association sur le déficit en Glut 1 (ASD GLUT1)
- Les Petits Bourdons
- AFM Téléthon
Consult the directory of patient associations in the G2M healthcare network
Watch the video of G2M’s partner associations
Download the poster of patient associations in the G2M healthcare network
8th French day on Pompe disease | Institut Imagine | 3.30.2018
> What was said is here (in French)
Newborn screening: MCAD deficiency, a sixth disease detected at birth
Le Parisien | 12.14.2020
As of December 1, all newborns are screened for medium chain fatty acid acyl-CoA dehydrogenase (MCAD) deficiency. This is in addition to the five other conditions already screened for.
> Read more
Contact information
Necker-Enfants malades university hospital
> Pediatric metabolic diseases
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the MAMEA reference center in brief …
* data valid for 2021