Presymptomatic Treatment of Neonatal Guanidinoacetate Methyltransferase Deficiency

Overview

Journal Neurology

Specialty Neurology

Date 2006 Aug 23

PMID 16924036

Citations 20

Authors

A Schulze

G F Hoffmann

P Bachert

S Kirsch

G S Salomons

N M Verhoeven

E Mayatepek

Affiliations

Soon will be listed here.

Abstract

Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-month treatment with creatine, high-dose ornithine, benzoate, and an arginine-restricted diet, the patient's development is normal and she does not present any symptoms of GAMT-D. The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic treatment may prevent its manifestation.

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