Het aantal verschillende stofwisselingsziekten ligt rond de 3000.  Deze komen echter niet allemaal voor in België. Belangrijk is dat er steeds nieuwe stofwisselingsziekten worden ontdekt met een frequentie van 46 op 8 jaar tijd, of ongeveer 6 per jaar !

In België leven naar schatting 1500 personen met een stofwisselingsziekte, waarvan een 800-tal in de CEMA's gevolgd worden.

Hieronder vindt U een overzicht van zo'n 250, meest voorkomende, stofwisselingsziekten.

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
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)
NBIA (Hallervorden Spatz)
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 Syndroom
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