Number of the records: 1
acidúria arginínjantárová
Record number d056807 Date 06.06.2025 Type M Topical term acidúria arginínjantárová Other term English (Pseudonym) Arginino Succinase Deficiency
Slovak (Pseudonym) acidúria arginínsukcinátová
Slovak (Pseudonym) deficit arginínsukcinázy
Slovak (Pseudonym) deficit ASA
Slovak (Pseudonym) deficiencia ASL
Slovak (Pseudonym) acidémia arginínjantárová
Slovak (Pseudonym) deficit arginínsukcinátlyázy
Slovak (Pseudonym) deficit arginínsukcinát-CoA lyázy
Slovak (Pseudonym) porucha syntézy močoviny, vrodená, arginínjantárový typ
Slovak (Pseudonym) porucha močovinového cyklu, arginínsukcinátový typ
See also (Later heading) arginínsukcinátlyáza
(Skutočné meno) arginínsukcinátlyáza
UDC C10.228.140.163.100.937.124C16.320.565.100.940.124C16.320.565.189.937.124C18.452.132.100.937.124C18.452.648.100.940.124C18.452.648.189.937.124 Note 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. 
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Number of the records: 1