5C53.4
Disorders of creatine metabolism
Distúrbios do metabolismo da creatina
CategoryDefinition
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
Index Terms
Disorders of creatine metabolismX-linked creatine transporter deficiencyX-linked intellectual deficit - seizures - short stature - midface hypoplasiaX-linked creatine deficiency syndromeGuanidinoacetate methyltransferase deficiencyCerebral creatine deficiencyGAMT - [guanidinoacetate methyltransferase] deficiencyArginine glycine amidinotransferase deficiencyAGAT - [Arginine glycine amidinotransferase] deficiency