Creatine disorders

Precise testing to guide treatment and management

Inborn errors of creatine metabolism, or creatine deficiency disorders, include guanidinoacetate methyltransferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency, and creatine transporter (CRTR) deficiency. These syndromes have varying inheritance patterns and symptom presentation, which can include developmental delay, intellectual disability, seizures, hypotonia, and behavioral issues. Because both these disorders can respond to dietary modifications and/or supplementation, early diagnosis is essential to guide the treatment and management of the specific condition.

Our genetic testing for creatine deficiency syndromes includes biochemical assays that assess patterns of creatine and creatinine levels in urine and plasma to assist in identifying the specific deficiency type. In addition, molecular genetic testing for the creatine deficiency disorders presented here is available through our custom gene ordering tool.