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 lijst van ziektebeelden met de bijhorende OMIM(Online Mendelian Inheritance in Man) nummers kan u terugvinden op BOKS vzw ziektebeelden met omim nummers
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)
8 tyrosinemia type 2
9 tyrosinemia type 3
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
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
30 Disorders of serine metabolism
31 Disorders of prolinehydroxyprolinepyrroline 5-carboxylate metabolism
32 hypotonia-cystinuria
33 Lowe oculocerebral syndrome
34 methylmalonic aciduria (CblA,B,C,D,F)
35 methylmalonic aciduria mutase deficiency type
36 transcobalamin 2 deficiency
40 3 methylglutaconic aciduria type 1, 2, 3, 4, 5
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 shortbranched chain acylCoA dehydrogenase deficiency (SBCADD)
48 malonic aciduria
49 holocarboxylase synthase deficiency
51 biotin responsive basal ganglia disease
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)
77 hyperinsulinism-hyperammonemia syndrome (HiHa)
78 familial hyperinsulinemic hypoglycemia, types 1-7
79 pyruvate dehydrogenase deficiency
80 Mitochondrial Complex 1 deficiency
81 Mitochondrial Complex 2 Deficiency
82 Mitochondrial Complex 3 Deficiency
83 Mitochondrial Complex 4 Deficiency
84 Mitochondrial Complex 5 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
91 camitine transporter deficiency
92 camitine palmitoyltransferase 1 deficiency
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)
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
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
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
129 glycogen storage disease type 2 (Pompe)
130 glycogen storage disease type 2b (Danon and PRKAG2)
131 Gaucher disease, type I, II and III
133 Hurler-Scheie disease (MPS I)
135 Sanfilippo A; B; C; D (MPS III)
136 other MPS types (IV, V, VI, VII, VIII) **
139 GM1 and GM2 gangliosidosis
140 Metachromatic Leukodystrophy
143 Sialidosis and galactosialidosis
144 I-cell disease and mucolipidosis IIIII
145 Free sialic storage diseases
146 Mucolipidosis IV
148 multiple sulfatase deficiency
150 ceroid lipofuscinosis type 1-10
151 phosphoribosyl pyrophosphate synthetase superactivity
152 adenylosuccinate lyase deficiency
155 guanidinoacetate methyltransferase deficiency (GAMT)
156 arginine:glycine amidinotransferase deficiency (AGAT)
157 creatine transporter deficiency
158 y-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)
169 Congenital disorders of N- andor O-glycosylation
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
177 Ziekte van Menkes (ATP7A transporter) –
R. other progressive neurodegenerative diseases
180 Infantile neuroaxonal dystrophy (PLA2G6)
181 Vanishing white matter disease
182 Pelizaeus-Merzbacher disease
183 osteogenesis imperfecta
184 Spier adenosine monofosfaat deaminase
185 Adenosine monophosphate deaminase 1 deficiency
186 Ureumcyclusdefecten (+ tweede document)
191 Fatty aldehyde dehydrogenase (Sjögren-Larsson)
193 Glucose-6-phosphate dehydrogenase deficiëntie (G6PD)
194 Glycerolkinase deficiëntie
196 Hypofosfatemische rachitis
198 Intermediaire – juveniele cystinose
199 LTBL (Leukoencephalopathy with Thalamus and Brainstem involvement and high Lactate)
200 MNGIE (myo-neuro-gastro-instestinale encephalopathy)
201 PCH2 (Pontocerebellaire Hypoplasie)
203 Purine nucleoside fosforylase deficiëntie
204 Syndroom van Aicardi Goutieres
205 Syndroom van Alpers, POLG1
209 Syndroom van Schindler (Alpha-N-acetylgalactosaminidase deficiëntie)
list of medicines to be used with caution in primary mitochondrial disease
spieradenosine monofosfaat deaminase
Dietary Supplements for Primary Mitochondrial Disorders
Pathway-to-diagnosis-and-burden-of-illness-MPS-VII-Manuscript-22.04.20
