Soorten
Over heel de wereld bestaan er ongeveer 3000 stofwisselingsziekten. Er komen er elk jaar zo’n 6 bij.
In België lijden zo’n 1500 personen aan een stofwisselingsziekte, waarvan er een 800-tal in de CEMA’s gevolgd worden.
De meest voorkomende stofwisselingsziekten
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 DOPA-responsive dystonia (TH, SPR, GCH1)
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 proline/hydroxyproline/pyrroline 5-carboxylate metabolism
32 hypotonia-cystinuria
33 Lowe oculocerebral syndrome
B. organic acidemias (+ tweede document)
34 methylmalonic aciduria (CblA,B,C,D,F)
35 methylmalonic aciduria mutase deficiency type
36 transcobalamin 2 deficiency
37 propionic acidemia
38 isovaleric aciduria
39 3-methylcrotonylglycinuria
40 3 methylglutaconic aciduria type 1, 2, 3, 4, 5
41 HMG CoA lyase deficiency
42 glutaric aciduria type 1
43 glutaric aciduria type 2 (MADD)
44 L-2 and D-2-OH glutaric aciduria
45 4-hydroxybutyric aciduria (SSADH deficiency)
46 isobutyryl CoA dehydrogenase deficiency (ACAD8)
47 short/branched chain acylCoA dehydrogenase deficiency (SBCADD)
48 malonic aciduria
C. biotin-responsive disorders
49 holocarboxylase synthase deficiency
51 biotin responsive basal ganglia disease
D. disorders of carbohydrate metabolism and glycogen storage diseases
52 sucrase isomaltase deficiency
53 congenital glucose/galactose malabsorption
54 hereditary fructose intolerance
55 galactosemia(uridylyltransferase deficiency)
56 galactosemia(epimerase deficiency)
57 galactosemia(galactokinase deficiency)
58 transaldolase deficiency
59 pyruvate carboxylase deficiency
60 phosphoenolpyruvate carboxykinase (PEPCK) deficiency
61 fructose 1,6-bisphosphatase deficiency
62 glycogenose 0 (glycogen synthase deficiency)
63 glycogenose Ia and Ib (G6Pase)
69 glycogenose IX phosphorylase kinase
70 glycogenosis X (phosphoglycerate mutase deficiency)
71 phosphoglycerate kinase deficiency
72 lactate dehydrogenase deficiency (type XI)
73 aldolase A deficiency (type XII)
74 ß-enolase deficiency (type XIII)
75 glucose transporter defect De Vivo syndrome (GLUT-1)
76 fanconi-bickel syndrome (GLUT-2)
E. hyperinsulinism
77 hyperinsulinism-hyperammonemia syndrome (HiHa)
78 familial hyperinsulinemic hypoglycemia, types 1-7
F. disorders of mitochondrial energy metabolism
79 pyruvate dehydrogenase deficiency
80 mitochondrial complex I deficiency
81 mitochondrial complex II deficiency
82 mitochondrial complex III deficiency
83 mitochondrial complex IV deficiency
84 mitochondrial complex V deficiency
85 mitochondrial DNA mutation/deletion/elongation
86 nuclear DNA mutation affecting mitochondrial structure and/or function
87 mitochondrial DNA depletion syndrome
88 clinical syndrome associated with mitochondrial disorder (report+board advise)
89 krebs cycle enzyme deficiencies
90 coQ10 synthesis defects
G. mitochondrial beta oxidation defects
91 camitine transporter deficiency
92 camitine palmitoyltransferase 1 deficiency
93 camitine translocase
94 camitine palmitoyltransferase 2 deficiency
95 short chain acyl coa dehydrogenase deficiency (SCADD)
96 short chain 3 oh acyl coa dehydrogenase deficiency (SCHADD)
97 medium chain acyl coa dehydrogenase deficiency (MCADD)
98 long chain acyl coa dehydrogenase deficiency (LCADD)
99 long chain 3 oh acyl coa dehydrogenase deficiency (LCHADD)
100 very long chain acyl coa dehydrogenase deficiency (VLCADD)
101 mitochondrial trifunctional protein
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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 a 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
J. peroxisomal disorders
121 zellweger spectrum (peroxisome biogenesis defects)
122 acyl-CoA oxidase deficiency
123 D-bifunctional protein deficiency
124 2-methyl-CoA racemase deficiency
125 X-linked adrenoleukodystrophy
126 Rhizomelic chondrodysplasia punctata
127 Refsum disease
128 Refsum disease infantile form
K. lysosomal disorders
129 glycogen storage disease type 2 (Pompe)
130 glycogen storage disease type 2b (Danon and PRKAG2)
131 Gaucher disease, type I, II and III
132 Fabry disease
133 Hurler-Scheie disease (MPS I)
135 Sanfilippo A; B; C; D (MPS III)
136 other MPS types (IV, V, VI, VII, VIII)
137 Niemann-Pick type A and B
138 Niemann-Pick type C
139 GM1 and GM2 gangliosidosis
140 Metachromatic Leukodystrophy
141 Krabbe leukodystrophy
142 Mannosidosis
143 Sialidosis and galactosialidosis
144 I-cell disease and mucolipidosis II/III
145 Free sialic storage diseases
146 Mucolipidosis IV
147 Fucosidosis
148 multiple sulfatase deficiency
149 Farber lipogranulomatosis
150 ceroid lipofuscinosis type 1-10
L. disorders of purine and pyrimidine me
tabolism
151 phosphoribosyl pyrophosphate synthetase superactivity
152 adenylosuccinate lyase deficiency
153 xanthinuria
154 Lesch-Nyhan syndrome
M. disorders of creatine metabolism
155 guanidinoacetate methyltransferase deficiency (GAMT)
156 arginine:glycine amidinotransferase deficiency (AGAT)
157 creatine transporter deficiency
N. disorders of neurotransmitter and small peptide metabolism
158 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)
O. Congenital defects of glycosylation (CDG)
169 Congenital disorders of N- and/or O-glycosylation
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
Q. disorders of copper metabolism
177 menkes disease
178 Wilson disease
R. other progressive neurodegenerative diseases
179 Alexander disease (GFAP)
180 Infantile neuroaxonal dystrophy (PLA2G6)
181 Vanishing white matter disease
182 Pelizaeus-Merzbacher disease
S. connective tissue disorders
183 osteogenesis imperfecta