" /> Citrullinemia, classic - CISMeF





Preferred Label : Citrullinemia, classic;

CISMeF acronym : CTLN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Citrullinemia, type I; Ass deficiency; CTLN1; Argininosuccinate synthetase deficiency; CITRULLINURIA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the argininosuccinate synthetase gene (ASS, 603470.0001);

Laboratory abnormalities : Hyperammonemia; High plasma citrulline (1000-5000 micromolar); High plasma glutamine; Low plasma arginine; Orotic aciduria; Hepatic argininosuccinate synthetase deficiency;

Prefixed ID : #215700;

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27/07/2025


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