L-arginine:glycine amidinotransferase deficiency

Disease Overview

L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate.[10032][9944]

Synonyms

• AGAT deficiency
• Arginine:glycine amidinotransferase deficiency
• Creatine deficiency syndrome due to AGAT deficiency
• GATM deficiency