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Case Reports
. 2006 Jan;87(1):88-90.
doi: 10.1016/j.ymgme.2005.09.017. 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

Vincenzo Leuzzi  1 , Carla Carducci, Claudia Carducci, Maria Matricardi, Maria Cristina Bianchi, Maria Lucia Di Sabato, Cristiana Artiola, Italo Antonozzi
Affiliations
Case Reports

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

Vincenzo Leuzzi et al. Mol Genet Metab. 2006 Jan.

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.

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