A new patient aVected by Guanidinoacetate methyltransferase (GAMT) deWciency 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 unaVected, the occurrence of biochemical alterations and disease in this subject testiWes against the possibility that isoform b had GAMT activity.

A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme / Leuzzi, Vincenzo; Carducci, Carla; Carducci, Claudia; Matricardi, Maria; Bianchi, Mc; DI SABATO, Ml; Artiola, C; Antonozzi, Italo. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - 87(1):(2006), pp. 88-90. [10.1016/j.ymgme.2005.09.017]

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

LEUZZI, Vincenzo;CARDUCCI, Carla;CARDUCCI, Claudia;MATRICARDI, Maria;ANTONOZZI, Italo
2006

Abstract

A new patient aVected by Guanidinoacetate methyltransferase (GAMT) deWciency 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 unaVected, the occurrence of biochemical alterations and disease in this subject testiWes against the possibility that isoform b had GAMT activity.
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A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme / Leuzzi, Vincenzo; Carducci, Carla; Carducci, Claudia; Matricardi, Maria; Bianchi, Mc; DI SABATO, Ml; Artiola, C; Antonozzi, Italo. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - 87(1):(2006), pp. 88-90. [10.1016/j.ymgme.2005.09.017]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/359951
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