Conditions / Genetic
AGAT deficiency
info · Genetic
An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
Signs and symptoms
- Reduced tissue arginine:glycine amidinotransferase activity
- Absent speech
- Delayed ability to walk
- Decreased urine guanidinoacetic acid level
- Reduced brain creatine level by MRS
- Intellectual disability
- Decreased circulating guanidinoacetic acid concentration
- Delayed speech and language development
- Organic aciduria
- Global developmental delay
Also known as: Cerebral creatine deficiency syndrome 3; arginine glycine amidinotransferase deficiency