Soorten stofwisselingsziekten

Over heel de wereld bestaan er ongeveer 1450 stofwisselingsziekten. Er komen er elk jaar zo’n 6 bij. In België lijden zo’n 2000 personen aan een stofwisselingsziekte, waarvan er een 900-tal in de CEMA’s gevolgd worden.

De meest voorkomende stofwisselingsziekten

Laatste update 16 november 2020

A. Disorders of amino acid metabolism

1 - Classical phenylketonuria and hyperphenylalaninemia - NL
1 - Classical phenylketonuria and hyperphenylalaninemia - FR
2 - Phenylketonuria due to PTPS deficiency
3 - Phenylketonuria due to DHPR deficiency
4 - Phenylketonuria due to PCD deficiency
5 - Tyrosine hydroxylase deficintie - NL
5 - Tyrosine hydroxylase deficintie - FR
6 - Leucinose, maple syrup urine disease (MSUD) - NL 
6 - Leucinose, maple syrup urine disease (MSUD) - FR
7 - Tyrosinemia type 1 - NL
7 - Tyrosinemia type 1 - FR
8 - Tyrosinemia type 2
9 - Tyrosinemia type 3
10 - Alkaptonuria - NL
10 - Alkaptonuria - FR
11 - Homocystinuria, B6 responsive and non responsive
12 - Homocystinuria due to MTHFR deficiency
13 - Homocystinuria-megaloblastic anemia Cbl E & G type
(extra document voor 11-12-13)
14 - Methionine S-adenosyltransferase deficiency
15 - Glycine N-methyltransferase deficiency
16 - S-adenosylhomocystine hydrolase deficiency
17 - Hyperammonemia due to CPS deficiency - NL
17 - Hyperammonemia due to CPS deficiency - FR
18 - Hyperammonemia due to OTC deficiency - NL
18 - Hyperammonemia due to OTC deficiency - FR
19 - Citrullinemia type I
20 - Citrullinemia type II
21 - Argininosuccinic aciduria (ASL deficiency) - NL
21 - Argininosuccinic aciduria (ASL deficiency) - FR
22 - Argininemia (arginase deficiency) - NL
22 - Argininemia (arginase deficiency) - FR
23 - Hyperammonemia due to NAGS deficiency - NL
23 - Hyperammonemia due to NAGS deficiency - FR
24 - Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH)
25 - Lysinuric protein intolerance - NL
25 - Lysinuric protein intolerance - FR
26 - Gyrate atrophy, B6 responsive or non responsive - NL
26 - Gyrate atrophy, B6 responsive or non responsive - FR
27 - Hyperlysinemia (alpha-aminoadipic semialdehyde synthase deficiency)
28 - Non ketotic hyperglycinaemia - NL
28 - Non ketotic hyperglycinaemia - FR
29 - Hartnup disorder - NL
29 - Hartnup disorder - FR
30 - Disorders of serine metabolism
31 - Disorders of prolinehydroxyprolinepyrroline 5-carboxylate metabolism - NL
31 - Disorders of prolinehydroxyprolinepyrroline 5-carboxylate metabolism - FR
32 - Hypotonia-cystinuria
33 - Lowe oculocerebral syndrome

D. Disorders of carbohydrate metabolism and glycogen storage diseases

52 - Sucrase isomaltase deficiency - NL
52 - Sucrase isomaltase deficiency - FR
53 - Congenital glucose/galactose malabsorption
54 - Hereditary fructose intolerance - NL
54 - Hereditary fructose intolerance - FR
55 - Galactosemia(uridylyltransferase deficiency) - NL
55 - Galactosemia(uridylyltransferase deficiency) - FR
56 - Galactosemia(epimerase deficiency) - NL
56 - Galactosemia(epimerase deficiency) - FR
57 - Galactosemia(galactokinase deficiency) - NL
57 - Galactosemia(galactokinase deficiency) - FR
58 - Transaldolase deficiency
59 - Pyruvate carboxylase deficiency - NL
59 - Pyruvate carboxylase deficiency - FR
60 - Phosphoenolpyruvate carboxykinase (PEPCK) deficiency - NL
60 - Phosphoenolpyruvate carboxykinase (PEPCK) deficiency - FR
61 - Fructose 1,6-bisphosphatase deficiency - NL
61 - Fructose 1,6-bisphosphatase deficiency - FR
62 - Glycogenose 0 (glycogen synthase deficiency) - NL
62 - Glycogenose 0 (glycogen synthase deficiency) - FR
63 - Glycogenose Ia and Ib (G6Pase) - NL
63 - Glycogenose Ia and Ib (G6Pase) - FR
64 - Glycogenose 3 Cori - NL
64 - Glycogenose 3 Cori - FR
65 - Glycogenose 4 Andersen - NL
65 - Glycogenose 4 Andersen - FR
66 - Glycogenose 5 Mc Ardle - NL
66 - Glycogenose 5 Mc Ardle - FR
67 - Glycogenose 6 Hers - NL
67 - Glycogenose 6 Hers - FR
68 - Glycogenose 7 Tarui - NL
68 - Glycogenose 7 Tarui - FR
69 - Glycogenose IX phosphorylase kinase - NL
69 - Glycogenose IX phosphorylase kinase - FR
70 - Glycogenosis X (phosphoglycerate mutase deficiency)
71 - Phosphoglycerate kinase deficiency
72 - Lactate dehydrogenase deficiency (type XI)
73 - Aldolase A deficiency (type XII) - NL
73 - Aldolase A deficiency (type XII) - FR
74 - ß-enolase deficiency (type XIII)
75 - Glucose transporter defect De Vivo syndrome (GLUT-1) - NL
75 - Glucose transporter defect De Vivo syndrome (GLUT-1) - FR
76 - Fanconi-bickel syndrome (GLUT-2) - NL
76 - Fanconi-bickel syndrome (GLUT-2) - FR

H. Disorders of ketone body metabolism

102 - 3-hydroxy-3-methylglutaryl-coA synthase deficiency

103 - 3-hydroxy-3methylglutaryl-coA lyase deficiency

104 - Succinyl-coA 3-oxoacid coA transferase deficiency (scot)

105 - ß-ketothiolase deficiency

I. Disorders of sterol, bile acid, lipid and lipoprotein metabolism

106 - Smith-lemli-opitz syndrome - NL
106 - Smith-lemli-opitz syndrome - FR
107 - Mevalonic aciduria
108 - 3ß-hydroxy d5 c27 hydroxysteroid dehydrogenase deficiency
109 - Alpha methylacyl-CoA racemase deficiency
110 - D4-3-oxosteroid 5ß reductase deficiency
111 - Oxysterol 7a hydroxylase deficiency
112 - Cerebrotendinous xanthomatosis
113 - Familial lipoprotein lipase deficiency & apo c2 deficiency - NL
113 - Familial lipoprotein lipase deficiency & apo c2 deficiency - FR
114 - Abetalipoproteinemia
115 - Tangier disease
116 - Inborn hypertriglyceridemia and lipodystrophy syndromes
117 - LCAT-deficiency (Norum disease and Fish-eye disease)
118 - Hypo-alphalipoproteinemia
119 - LPIN1 lipid myopathy
120 - Wolman & cholesteryl ester storage disease - NL
120 - Wolman & cholesteryl ester storage disease - FR

K. Lysosomal disorders

129 - Glycogen storage disease type 2 (Pompe) - NL
129 - Glycogen storage disease type 2 (Pompe) - FR
130 - Glycogen storage disease type 2b (Danon and PRKAG2)
131 - Gaucher disease, type I, II and III - NL
131 - Gaucher disease, type I, II and III - FR
132 - Fabry disease - NL
132 - Fabry disease - FR
133 - Hurler-Scheie disease (MPS I) - NL
133 - Hurler-Scheie disease (MPS I) - FR
134 - Hunter disease (MPS II) - NL
134 - Hunter disease (MPS II) - FR
135 - Sanfilippo A; B; C; D (MPS III) - NL
135 - Sanfilippo A; B; C; D (MPS III) - FR
136 A - MPS 6 Syndroom van Maroteaux-Lamy - NL
136 A - MPS 6 Syndroom van Maroteaux-Lamy - FR
136 B - MPS 7 Syndroom van Sly - NL
136 B - MPS 7 Syndroom van Sly - FR
136 - Other MPS types (IV, V, VI, VII, VIII) - NL  **
136 - Other MPS types (IV, V, VI, VII, VIII) - FR **
137 - Niemann-Pick type A and B - NL
137 - Niemann-Pick type A and B - FR
138 - Niemann-Pick type C - NL
138 - Niemann-Pick type C - FR
139 - GM1 and GM2 gangliosidosis - NL
139 A. Tay-Sachs (GM2 type 1) - FR
139 B. Sandhoff (GM 2 type2) - FR
140 - Metachromatic Leukodystrophy
141 - Krabbe leukodystrophy - NL
141 - Krabbe leukodystrophy - FR
142 - Mannosidosis - NL
142 A. α-Mannosidose - FR
142 B. β- Mannosidose - FR
143 - Sialidosis and galactosialidosis - NL
143 A. Galactosialidose - FR
143 B. Sialidose - FR
144 - I-cell disease and mucolipidosis IIIII - NL
144 - I-cell disease and mucolipidosis IIIII - FR
145 - Free sialic storage diseases
146 - Mucolipidosis IV
147 - Fucosidosis - NL
147 - Fucosidosis - FR
148 - Multiple sulfatase deficiency
149 - Farber lipogranulomatosis - NL
149 - Farber lipogranulomatosis - FR
150 - Ceroid lipofuscinosis type 1-10 - NL
150 A. CLN1 (infantiele NCL) Haltia-Santavuori - FR
150 B. CLN2 (NCL type 2) Jansky-Bielschowski - FR
150 C. CLN3 (NCL type 3) Batten-Spielmeyer-Vogt - FR
150 D. CLN4 (NCL type 4) ziekte van Kufs - FR
150 E. CLN5, Finse variant - FR

** Other MPS types:
Pathway-to-diagnosis-and-burden-of-illness-MPS-VII-Manuscript-22.04.20 - EN

P. Porphyrias

170 - 5-aminolevulinic acid synthase deficiency
171 - 5-aminolevulinic acid dehydratase porphyria
172 - Acute intermittent porphyria
173 - Hereditary coproporphyria
174 - Variegate prophyria
175 - Congenital erythropoietic porphyria
176 - Erythropoietic protoporphyria - NL
176 - Erythropoietic protoporphyria - FR

T. Andere stofwisselingsziekten

185 - Adenosine monophosphate deaminase 1 deficiency
186 - Ureumcyclusdefecten (+ tweede document)
187 - Ketolysis Defecten
188 - Carnitine / acylcarnitine translocase deficiëntie - NL
188 - Carnitine / acylcarnitine translocase deficiëntie - FR
189 - Primaire hyperoxaluria - FR
189 - Crigler Najjar - FR
190 - Fosfaatdiabetes (XLH)
190 - Déficit en DER (2,4 diénol coenzyme A réductase)- FR
191 - Fatty aldehyde dehydrogenase (Sjögren-Larsson) - NL
191 - Fatty aldehyde dehydrogenase (Sjögren-Larsson) - FR
192 - Fructosurie - NL
192 - Fructosurie - FR
193 - Glucose-6-phosphate dehydrogenase deficiëntie (G6PD) - NL
193 - Glucose-6-phosphate dehydrogenase deficiëntie (G6PD) - FR
194 - Glycerolkinase deficiëntie - NL
194 - Glycerolkinase deficiëntie - FR
195 - Hypofosfatasemie - NL
195 - Hypofosfatasemie - FR
196 - Hypofosfatemische rachitis - NL
196 - Hypofosfatemische rachitis - FR
197 - Infantiele cystinose - NL
197 - Infantiele cystinose - FR
198 - Intermediaire – juveniele cystinose - NL
198 - Intermediaire – juveniele cystinose - FR

199 - LTBL (Leukoencephalopathy with Thalamus and Brainstem involvement and high Lactate) - NL
199 - LTBL (Leukoencephalopathy with Thalamus and Brainstem involvement and high Lactate) - NL
200 - MNGIE (myo-neuro-gastro-instestinale encephalopathy) - NL
200 - MNGIE (myo-neuro-gastro-instestinale encephalopathy) - FR
201 - PCH2 (Pontocerebellaire Hypoplasie) - NL
201 - PCH2 (Pontocerebellaire Hypoplasie) - FR
202 - PCH6 - NL
202 - PCH6 - FR
203 - Purine nucleoside fosforylase deficiëntie - NL
203 - Purine nucleoside fosforylase deficiëntie - FR
204 - Syndroom van Aicardi Goutieres - NL
204 - Syndroom van Aicardi Goutieres - FR
205 - Syndroom van Alpers, POLG1 - NL
205 - Syndroom van Alpers, POLG1 - FR
206 - Syndroom van Bartter - NL
206 - Syndroom van Bartter - FR
207 - Syndroom van Cockayne - NL
207 - Syndroom van Cockayne - FR
208 - Syndroom van Leigh - NL
208 - Syndroom van Leigh - FR
209 - Syndroom van Schindler (Alpha-N-acetylgalactosaminidase deficiëntie) - NL
209 - Syndroom van Schindler (Alpha-N-acetylgalactosaminidase deficiëntie) - FR
210 - Hypofosfatasemie - NL
210 - Hypofosfatasemie - FR

De lijst van ziektebeelden met de bijhorende OMIM (Online Mendelian Inheritance in Man) nummers kan u terugvinden op de lijst met ziektebeelden met omim nummers.


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