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Enzyme diagnostics

The Metabolic laboratory can measure several specialised enzyme activities for defects in the GABA metabolisme, the pentose phosphate pathway, creatine metabolisme and creatine transport, homocysteine metabolisme and the 2-hydroxyglutaricacidurias. See the table below for an overview.

Enzyme

 Material

 

4-aminobutyrate aminotransaminase (GABA-T)

 Lymphoblasts*, lymphocyts

 

Arginine glycine amidino transaminase (AGAT)

 Lymphoblasts, lymphocyts

 

Biotinidase (BIO)

 Plasma (1 ml)

 

Creatine uptake assay (CTR)

 Fibroblasts

 

Cystathionine beta synthase (CBS)

 Fibroblasts

 

D-2-Hydroxyglutarate dehydrogenase (D2HGDH)

 Lymphoblasts, fibroblasts

 Research only **

Dihydrofolate reductase (DHFR)

 Lymphoblasts

 

Guanidino acetate methyltransferase (GAMT)

 Fibroblasts, Lymphoblasts

 

L-2-Hydroxyglutarate dehydrogenase (L2HGDH)

 Lymphoblasts, fibroblasts

 Research only **

Methylenetetrahydrofolate reductase (MTFR)

 Fibroblasts, lymphocyts

 

Ribose-5-fosfate isomerase (RPI)

 Lymphoblasts*, fibroblasten

 

Ribulose-5-fosfate epimerase (RPE)

 Lymphoblasts, fibroblasts

 Research only **

Succinaat semialdehyde dehydrogenase (SSADH)

 Lymphoblasts, lymphocyts

 

Transaldolase (TALDO)

 Lymphoblasts, fibroblasts

 

Transketolase (TK)

 Lymphoblasts, fibroblasts

 Research only **

* preferred material, **only after consultation

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