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, click on the material type for further details:

Enzyme Material
4-aminobutyrate aminotransaminase (GABA-T) Lymphocyts, Lymphoblasts
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 Research only **
Guanidino acetate methyltransferase (GAMT) Lymphoblasts, Fibroblasts
L-2-Hydroxyglutarate dehydrogenase (L2HGDH) Fibroblasts, lymphoblasts 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, lymphocytes
Transketolase (TK) Lymphoblasts, fibroblasts Research only **

* preferred material, **only after consultation