AGAT deficiency
MeSH: C567192ORPHA: 35704
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with AGAT deficiency, sourced from HPO and Orphanet clinical annotations.
Global developmental delayCognitive impairmentReduced tissue arginine:glycine amidinotransferase activityDelayed speech and language developmentMuscle weaknessMyopathyDecreased serum creatinineReduced brain creatine level by MRSReduced circulating creatine concentrationDecreased CSF creatinine concentrationDecreased urine guanidinoacetic acid levelDecreased urine creatinine levelDecreased urinary creatine levelAtypical behaviorSeizureHypotoniaGait disturbance
Classification & Codes
MeSH Code
C567192Orphanet Code
ORPHA:35704AGAT deficiency
| MeSH | C567192 |
| Orphanet | ORPHA:35704 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO