05Endocrine, nutritional or metabolic diseases Metabolic disorders Inborn errors of metabolism 5C53Inborn errors of energy metabolism
5C53.4
category
Disorders of creatine metabolism
Definition 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
Also indexed as
AGAT - [Arginine glycine amidinotransferase] deficiency Arginine glycine amidinotransferase deficiency Cerebral creatine deficiency Disorders of creatine metabolism GAMT - [guanidinoacetate methyltransferase] deficiency Guanidinoacetate methyltransferase deficiency X-linked creatine deficiency syndrome X-linked creatine transporter deficiency X-linked intellectual deficit - seizures - short stature - midface hypoplasia
Nearby in Inborn errors of energy metabolism
International Classification of Diseases, Eleventh Revision (ICD-11), World Health Organization (WHO) 2019/2021, https://icd.who.int/browse11. Licensed under Creative Commons Attribution-NoDerivatives 3.0 IGO (CC BY-ND 3.0 IGO).
Release 2026-01.
View this entity in the official WHO ICD-11 browser .
This page reproduces WHO classification content for reference. It is not
medical advice and must not be used to diagnose or treat. For coding
decisions, consult the official release and your national coding guidelines.
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