5C53.4 Disorders of creatine metabolism
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
An inborn error of metabolism in creatine which serves as an energy shuttle between the mitochondrial sites of ATP production and the cytosol where ATP is utilized
synonyms
- Disorders of creatine metabolism
- X-linked creatine transporter deficiency
- X-linked intellectual deficit - seizures - short stature - midface hypoplasia
- X-linked creatine deficiency syndrome
- Guanidinoacetate methyltransferase deficiency
- Cerebral creatine deficiency
- GAMT - [guanidinoacetate methyltransferase] deficiency
- Arginine glycine amidinotransferase deficiency
- AGAT - [Arginine glycine amidinotransferase] deficiency
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com