Enzyme Diagnostics
| Mucolipidosen |
Disease/Ziekte |
|---|---|
| α- D- mannosidase |
ML II &MIII , I-cell/ Pseudo-Hurler |
| Mucopolysaccharidosen |
Disease/Ziekte |
|---|---|
| Arylsulfatase B | |
| β- D-glucuronidase | |
| α- L- iduronidase | |
| N- acetyl-α- D- glucosaminidase |
| Oligosaccharidosen |
Disease/Ziekte |
|---|---|
| α- L- Fucosidase | |
| α- D- Mannosidase |
|
Aminozuren/organische zuren stofwisseling |
|---|
|
Dihydropteridine reductase |
|
Succinyl:acetoacetyl-CoA transferase |
|
Mitochondriale beta -oxidatie |
|---|
|
Acyl-CoA dehydrogenase MCAD |
|
Acyl-CoA dehydrogenase: (V)LCAD |
|
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) |
| Koolhydraatstofwisseling |
Disease/Ziekte |
|---|---|
| α- glucosidase lysosomaal | |
| Galactokinase | |
| Galactose-1-P uridyl transferase |
| Last modified: | 07 January 2021 2.27 p.m. |