Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.

ABSTRACT:

Background

Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. Serial examinations by magnetic resonance spectroscopy are required to evaluate Cr recovery in brain during treatment of high doses of Cr per os, which have been proved beneficial and effective in treating main clinical symptoms. A long term study with detailed reports on clinical, neurochemical and neuropsychological outcomes of the first Italian patients affected by AGAT-d here reported can represent a landmark in management of this disorder thus enhancing medical knowledge an

SUBMITTER: Battini R 

PROVIDER: S-EPMC5289057 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature