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poruchy močovinového cyklu, vrodené
Record number d056806 Date 06.06.2025 Type M - MESH Topical term poruchy močovinového cyklu, vrodené Other term English (Pseudonym) Inborn Urea Cycle Disorder
English (Pseudonym) Urea Cycle Disorders
Slovak (Pseudonym) poruchy cyklu kyseliny močovej, vrodené
Slovak (Pseudonym) poruchy močovinového cyklu
Slovak (Pseudonym) porucha močovinového cyklu, vrodená
UDC C10.228.140.163.100.937C16.320.565.100.940C16.320.565.189.937C18.452.132.100.937C18.452.648.100.940C18.452.648.189.937 Note Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. 
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Number of the records: 1