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Argininosuccinic aciduria

MONDO:0008815

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

Also known as: ASA deficiency, ASL deficiency, argininosuccinase deficiency, argininosuccinatelyase deficiency, argininosuccinic acid lyase deficiency, argininosuccinic aciduria, arginino succinase deficiency, argininosuccinate acidemia

29 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Urea cycle disorder (10) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (0) Disease by developmental or physiological process (0)
Trials to join now! 15 Not yet recruiting 4 Not yet finished but already full! 5 Completed 5
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