" /> Argininemia - CISMeF





Preferred Label : Argininemia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arg1 deficiency; HYPERARGININEMIA; Arginase deficiency;

Description : Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the arginase gene (ARG1, 207800.0001);

Laboratory abnormalities : Hyperammonemia; Diaminoaciduria (argininuria, lysinuria, cystinuria, ornithinuria); Hyperargininemia; Orotic aciduria; Pyrimidinuria; Elevated CSF amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine);

Prefixed ID : #207800;

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28/07/2025


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