Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

ABSTRACT:

Introduction

Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month. A less time-consuming diagnostic functional test is needed, since GAMT deficiency is a candidate for newborn screening (NBS) programs, to be able to confirm or rule out this IEM after an initial positive result in the NBS.

Methods

Stable-isotope-labeled ¹³C

SUBMITTER: Berends LM 

PROVIDER: S-EPMC5740046 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature