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acidúria arginínjantárová

Subject h.	acidúria arginínjantárová
Subject h.	Argininosuccinic Aciduria
Entry terms	acidúria arginínsukcinátová deficit arginínsukcinázy deficit ASA deficiencia ASL acidémia arginínjantárová deficit arginínsukcinátlyázy deficit arginínsukcinát-CoA lyázy porucha syntézy močoviny, vrodená, arginínjantárový typ porucha močovinového cyklu, arginínsukcinátový typ
English X references	Arginino Succinase Deficiency
Scope note in English	Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
See also reference (FX) in Slovak	arginínsukcinátlyáza
See also reference (FX) in English	Argininosuccinate Lyase
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Number of the records: 1