Carbamoylphosphate synthetase deficiency

Description

Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis.

Index terms

Carbamoylphosphate synthetase deficiency
Carbamylphosphate synthetase deficiency

Exclusions from above levels

5C50.9 – Disorders of ornithine metabolism
5C60.Y – Lysinuric protein intolerance
http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias

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3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia
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

5C50.A0 – Argininosuccinic aciduria
5C50.A2 – Argininaemia
5C50.A3 – Citrullinaemia
5C50.AY – Other specified disorders of urea cycle metabolism
5C50.AZ – Disorders of urea cycle metabolism, unspecified

Foundation entity

Carbamoylphosphate synthetase deficiency – http://id.who.int/icd/entity/327894003

Part of: 5C50.A: Disorders of urea cycle metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases