GAMT-activity

GAMT activity is measured in homogenates of cultured lymphoblasts or fibroblasts... 

The assay is performed using [13C2]-GA and [2H3]-S-adenosylmethionine as substrates followed by the measurement of [13C2-2H3]Cr by the regular GC-MS procedure, which represents GAMT activity (Table 7.2.6). 

Table 7.2.6 GAMT activity in controls, heterozygotes, and GAMT-deficient patients...

GAMT deficiency has been known for more than 10 years now and several affected patients have been reported [6]. The severity of clinical symptoms varies widely. Affected patients show developmental delay with absence of active speech and, in older patients, autism with self injury. More severely affected patients present with severe extrapyramidal symptoms and intractable epilepsy. Biochemical diagnosis can be made by analysis of GA in the plasma or urine. 

GAMT, AGAT CRTR activity Liver Store at -80 C ... 

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