urea cycle disorder citrullinemia https://www.malacards.org/card/citrullinemia OMIMPS:215700 SCTID:124711003 UMLS:C0175683 Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). MESH:D020159 MONDO:0015991 DOID:9273 GARD:0016522 MEDGEN:104491 ICD10CM:E72.23 icd11.foundation:640937125 Orphanet:187 ass deficiency deficiency of citrulline-aspartate ligase NCIT:C84639