Mol Genet Metab. 2006 Jan;87(1):88-90. Epub 2005 Nov 15.

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, Artiola C, Antonozzi I.

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Department of Child Neurology and Psychiatry, University of Rome La Sapienza-Via dei Sabelli 108, 00185 Rome, Italy. vincenzo.leuzzi@uniroma1.it

Abstract

A new patient affected by Guanidinoacetate methyltransferase (GAMT) deficiency was reported. This 13-year-old girl presented with mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical (brain magnetic resonance spectroscopy) alterations. Molecular study detected a L197P transition on exon 6 of the GAMT gene. Since this mutation leaves the isoform B of the GAMT enzyme unaffected, the occurrence of biochemical alterations and disease in this subject testifies against the possibility that isoform b had GAMT activity.

PMID:: 16293431; [PubMed - indexed for MEDLINE]

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