argininosuccinic aciduria
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.
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
ASA deficiency
exact
ASL deficiency
exact
arginino succinase deficiency
related
argininosuccinase deficiency
exact
argininosuccinate acidemia
related
argininosuccinatelyase deficiency
exact
argininosuccinic acid lyase deficiency
exact
argininosuccinic aciduria
exact
argininosuccinicaciduria
related
inborn error of urea synthesis, arginino succinic type
related
urea cycle disorder, arginino succinase type
related
SPBC1773.14 SPBC1539.03c