Citrullinaemia type 1 (Q88501): Difference between revisions

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Latest revision as of 14:44, 15 August 2026

Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ).

Language	Label	Description	Also known as
default for all languages	ID_1410274578
English	Citrullinaemia type 1	Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ).