Disorders of creatine metabolism

Description

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 metabolism
X-linked creatine transporter deficiency
X-linked creatine deficiency syndrome

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X-linked intellectual deficit - seizures - short stature - midface hypoplasia
Guanidinoacetate methyltransferase deficiency
Cerebral creatine deficiency
GAMT - [guanidinoacetate methyltransferase] deficiency
Arginine glycine amidinotransferase deficiency
AGAT - [Arginine glycine amidinotransferase] deficiency

Exclusions from above levels

http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia

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5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

5C53.0 – Disorders of pyruvate metabolism
5C53.1 – Disorders of the citric acid cycle
5C53.2 – Disorders of mitochondrial oxidative phosphorylation
5C53.3 – Disorders of mitochondrial membrane transport
5C53.Y – Other specified inborn errors of energy metabolism
5C53.Z – Inborn errors of energy metabolism, unspecified

Foundation entity

Disorders of creatine metabolism – http://id.who.int/icd/entity/223450548

Part of: 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases