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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

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