Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. Disease data Classification Clinical subtype Synonyms Acute neonatal citrullinemia type 1 Citrulinemia klasyczna typu 1 Citrulinemia klasyczna typu I Ostra citrulinemia noworodkowa typu 1 Ostra noworodkowa cytrulinemia typu I Early-onset citrullinemia type 1 Early-onset citrullinemia type I ORPHA code 247546 OMIM code - ICD10 code E72.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl