Le nombre des différentes maladies métaboliques s’élève à environ 3000. Elles n’apparaissent certes pas toutes en Belgique. Il est important de noter que de nouvelles maladies métaboliques sont découvertes à la cadence de 46 en 8 ans de temps, soit environ 6 par an !

En Belgique, on estime à 1500 le nombre de personnes atteintes d’une maladie métabolique, dont 800 sont suivies dans les CEMA.

Vous trouvez ci-dessous un aperçu de 250 maladies métaboliques, le plus fréquemment observées.

Abetalipopprotinaemia
Achondroplasia
Adenosine Deaminase Deficiency
Adrenal Hyperplasia
Adrenal Hypoplasia
Aicardi-Goutieres Syndrome
Alagille Syndrome
Alcaptonuria
Alpers Disease
Alpha One Antitrypsin Deficiency
5 Alpha Reductase Deficiency
Alports Syndrome
Alstroni s Disease
Amyloidosis
Androgen Insensitivity
Arachidonic Acid, Absence of:
Arginase Deficiency
Arginosuccinic Aciduria (ASA)
Aromatic amino acid decarboxylase deficiency
Arterial Calcification of Infancy
Occlusive Infantile Arteriopathy
Arylsulphatase A Deficiency
Aspartyl Glucosaminuria
Ataxia Telangiectasia
Bartters Syndrome
Batten's Disease
Berardinelli Lipodystrophy Syndrome
Beta Ketothiolase Deficiency
2 Methylacetoacetyl CoA Thiolase Deficiency
Beta-Methylcrotonylglycinuria
Biliary Hypoplasia
Biotin Deficiency
CI Esterase Deficiency
Carbamyl Phosphate Synthetase Deficiency (CPS)
Carbohydrate Deficient Glycoprotein Syndrome
Carnitine Deficiency
Carnitine Palmitoyltransferase Deficiency
Cerebrotendinous Xanthomatosis
Chondrodysplasia Punctata
Citrullinaemia
Cobalamin C/G Deficiency
Cockayne Syndrome
Crigler Najjar Syndrome type I
Cystinosis
Cystinuria
Cytochrome C Oxidase Deficiency
Diabetes Insipidus
Dysmyelination
Endocardial Fibroelastosis
Ethylmalonic Aciduria
Ethylmalonic Adipic Aciduria
Farbers Disease
Fabry's Disease
Fanconi's Syndrome
Fish Odour Syndrome (Trimethylamineuria)
Fructose Intolerance, hereditary
Fructose 1/6 Diphosphate Deficiency
Fucosidosis
Galactokinase Deficiency
Galactosaemia
Gangliosidosis GM1
Gangliosidosis GM2 (Hexosaminidase A Deficiency)
Gauchers Disease
Gilberts Disease
Gitelman s Disease
Glanzmann Thrombasthenia
Global Disaccharide Intolerance
Glucose 6 Phosphate Dehydrogenase Deficiency
Glucose Galactose Malabsorption Deficiency
Glutaric Aciduria
Glutaric Aciduria type 2
Glutathion Synthetase Deficiency - see 5 Oxoprolinuria
Glycogen Storage Disease Type 1 (Von Gierke) + lc
Glycogen Storage Disease Type 2 (Pompe)
Glycogen Storage Disease Type 3 (Forbes)
Glycogen Storage Disease Type 5 (McArdles)
Glycogen Storage Disease Type 9
Hallervorden Spatz
Hartnup Disease (Tryptophan Malabsorption)
Hemochromatosis, Neonatal
HMG CoAlyase Deficiency
Holocarboxylase Deficiency
Homocystinuria
Hunter
Hurler
Hydroxicarboxylic Aciduria
3 Hydroxy Acyl CoA Dehydrogenase Deficiency
4 Hydroxybutyric Aciduria
2 Hydroxyglutaric Aciduria
3 Hydroxy-Methyl Glutaryl Co Alyase Def - see HMG
Hyperammonaemia OTC Deficiency
Hyperammonaemia CPS Defici~=ncy
Hyperammonaemia NAGS
Hypercalcaemia Hypocalcinuria
Hypercalcinuria (hy~ercalcuira)
Hypercholesterolemia
Hyperchylomicronaemia
Hyperglycinaemia
Hyperinsulinism
Hyperlipidaemia
Hyperlipoprotinaemia
Hyperornithinaemia
Hyperoxaluria (Type 1)
Hyperprolinaemia
Hypertriglycridaemia
Hypobetalipoprotinaemia
Hypo lycaemia
Hypo~poprotinaemia
Hypoparathyroidism
Hypophosphatasia
Hypophosphatemic Rickets -
(Vitamin D Resistant Rickets)
Hypoprothrombinaemia
Hypothyroidism
I Cell Disease
Infantile Hypercalcaemia
(Williams Syndrome)
Infantile Neuroaxonal Dystrophy
Isovaleric Acidaemia
Juvenile Dystonic Lipidosis - sea Niemann pick C
Kearns-Sayre Disease
Kuf's Disease
Lactic Acidosis
Lafora Body Disease
LCHAD
Lebers Optic Atrophy
Leigh s Encephalopathy
Lesch-Nyhan Syndrome
Leukodystrophy - Adreno (Schilder's Disease)
Leukodystrophy - Alexanders
Leukodystrophy - Krabbes
Leukodystrophy - Metachromatic
Leukodystrophy - Metachromatic (Pseudo)
Leukodystrophy - Spongiform f Canavan's)
Leukodystrophy - Pelizaeus Merzbacher
Leukodystrophy - Sudanophilic
Leukodystrophy - Zellweger Syndrome
Leukodystrophy - Pseudo Zellv~eger Syndrome
Lipodystrophy
Long Chain Acyl CoA Dehydragenase Deficiency (LCAD)
Lowes Syndrome
Mannosidosis
Maple Syrup Urine Disease
Marmesco-S orgren
Maroteux-Lamy
Medium Chain Acy1 CoA Dehydrogenase
Deficiency (MCAD)
MELAS
(Mitochondrial myopaihy encephalopthy lactic
acidosis, and strokelike episodes)
Menkes
Methionine Adenosyl Transferase
2 Meth lacetoacetyl-CoA Thiolase Def - see Beta Ketothia
Deficiency
Methylenetetrahydrofolate Reductase Deficiency
3 Methyl~lutaconic Aciduria
Methylmalonic Aciduria
Microcephaly
Mitochondrial Cytopathy
Mitochondrial PEPCK Deficiency
Mitochondrial Myopathy
Molybdenum CoFactor Deficiency (xanthine oxidase/sul
oxidase deficiency)
Mucolipidosis II - see I Cell Disease
Mucolipidosis 111- see Pseudo Hurler Polydystrophy
Mucolipidosis IV
Multiple Acyl CoA Dehydrogenase Deficiency
Multiple Carboxylase Deficiency
Multiple Sulphatase Deficiency
Myoadenylate Deaminase '
Myotonia Congenita (Thomsen Disease)
Morquio
N-Acetylglutamate Synthetase Deficiency (NAGS)
Nesidioblastosis
Neurovisceral Storage Disease - see Niemann Pick C
Nevilles Disease - see Niemann Pick C
Niemann-Pick Disease Type A
Niemann-Pick Disease Type B
Niemann-Pick Disease Type C
Occlusive Infantile Arteriopathy -
see Arterial Calfification of Infancy
Ocular Albinism
Olivopontocerebellar Atrophy
Ornithinaemia
5 Oxoprolinuria - see Glutathion Synthetase Deficiency
Pearson Syndrome
Peroxisomal Defects
Phenosulphotransferase Deficiency
Phenylketonuria (PKU)
Porphvria - Acute Intermittent
Porphyria - Erythropoietic
Porphyria - Protoporphyria
Progeria
Propionic Acidaemia
Pseudo Achondroplasia
Pseudo Hurler Polydystrophy - see Mucolipidosis 11
Pseudohypoaldosteronism
Pseudohypoparathyroidism
Pseudopseudo Hypoparathyroidism
Pseudocholinesterase Deficiency
Pseudoxanthoma Elasticum
Purine Metabolism
Pyridoxine Dependent Vitamin B Deficiency
Pyroglutamic Aciduria
Pyruvate Dehydrogenase Complex
I'yruvate Dehydrongenase Deficiency
Pyruvate ICinase ~eficiency
Refsums Disease (Infantile)
Rhizomelic Chondropdysplasia Punctata
Riley-Day Syndrome
Sandhoff's Disease y
Schwachman-Diamond S ndrome
Serum Cholinesterase (Pseudocholinesterase) Def
Sialic Acid Storage Disease
Steroid Sulphatase Deficiency with Icthiosis and
Microcephaly with global delay
Sanfilippo
Scheie
Sly
Sucrose Isomaltose Enzyme Deficiency
Superanuclear Opthalmoplegic Lipidosis - see Niemann Pick
Tay Sachs
Tetrahydrobiopterin Deficiency
The Mucopolysaccharide Diseases (MPS)
Thomsen Disease (Myotonia Congenita)
Trimethylamineuria (Fish Odour Syndrome)
Triosephosphate Isomerase Deficiency
Tyrosinaemia Type I
Wests Syndrome
Wilson's Disease
Wiskott-Aldrich Syndrome
Wolmans Disease
Xeroderma/Pigmentosum