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
2 - Phenylketonuria due to PTPS deficiency
3 - Phenylketonuria due to DHPR deficiency
4 - Phenylketonuria due to PCD deficiency
5 - Tyrosine hydroxylase deficintie
6 - Leucinose, maple syrup urine disease (MSUD)
7 - Tyrosinemia type 1
8 - Tyrosinemia type 2
9 - Tyrosinemia type 3
10 - Alkaptonuria
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
18 - Hyperammonemia due to OTC deficiency
19 - Citrullinemia type I
20 - Citrullinemia type II
21 - Argininosuccinic aciduria (ASL deficiency)
22 - Argininemia (arginase deficiency)
23 - Hyperammonemia due to NAGS deficiency
24 - Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH)
25 - Lysinuric protein intolerance
26 - Gyrate atrophy, B6 responsive or non responsive
27 - Hyperlysinemia (alpha-aminoadipic semialdehyde synthase deficiency)
28 - Non ketotic hyperglycinaemia
29 - Hartnup disorder
30 - Disorders of serine metabolism
31 - Disorders of prolinehydroxyprolinepyrroline 5-carboxylate metabolism
32 - Hypotonia-cystinuria
33 - Lowe oculocerebral syndrome

E. Hyperinsulinism

77 - Hyperinsulinism-hyperammonemia syndrome (HiHa)

78 - Familial hyperinsulinemic hypoglycemia, types 1-7

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
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
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

N. Disorders of neurotransmitter and small peptide metabolism

158 - Yy-glutamyl transpeptidase deficiency and other disorders of glutathion metabolism
159 - Folate transporter defects
160 - Trimethylaminuria & dimethylglycine dehydrogenase deficiency
161 - Aromatic amino-acid decarboxylase (AADC)
162 - Gaba transaminase deficiency
163 - Monoamine oxidase deficiency
164 - Dopamine beta-hydroxylase deficiency
165 - Pyridoxine dependent seizures
166 - Pyridoxamine 5-phosphate oxidase deficiency (pyridoxal-P responsive seizures)
167 - Molybdenum cofactor deficiency, sulfite oxidase deficiency
168 - Acetylaspartic aciduria (Canavan‘s disease)

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

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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