Disease/Ziekte
MLD
Morquio-B GM1
Fabry Fabry2
GM2 Sandhoff
GM2 Tay-Sachs Tay-Sachs-2
Gaucher Gaucher-2
Niemann Pick A,B
Schindler
Krabbe
ML II &MIII , I-cell/ Pseudo-Hurler
Mannosidose A+B
Maroteaux-Lamy
MPS type VII , Sly
Hurler en Scheie
Sanfilippo type B, Mps-III
Fucosidosis
Mannosidosis
Aminozuren/organische zuren stofwisseling
Carnosinase
Dihydropteridine reductase
Glutamaat dehydrogenase
Glutathion reductase
Succinyl:acetoacetyl-CoA transferase
Sulfietoxidase
Biotinidase
Mitochondriale beta -oxidatie
Acyl-CoA dehydrogenasse SCAD
Acyl-CoA dehydrogenase MCAD
Acyl-CoA dehydrogenase: (V)LCAD
Carnitine palmitoyl-CoA transferase I
Carnitine palmitoyl-CoA transferase II
3-oxo-acyl-CoA thiolase
Overall β- oxidatie met Myristinezuur en Palmitaat
Oxidatieve fosforylering
Citraatsynthetase
NADH-Q1 oxidoreductase (complex I)
Cytochroom C oxidase (complex IV)
GSD-0
GSD-1a , Von Gierke
GSD II , Pompe Pompe-2
GSD-III , Cori of Forbes
GSD-IV , Andersen
GSD-VI , Hers
GSD-IX
Galactosemie
Glucose-6-P dehydrogenase
Pyruvaat kinase
Fructose-1,6-difosfatase
Fructose-1-P aldolase
Pyruvaat carboxylase
PDHc
Ureum-cyclus
Arginase
Argininosuccinaat lyase
Argininosuccinaat synthetase 1
Carbamoyl fosfaat synthetase
Ornithine carbamyl transferase
