Citrullinemia

Citrullinemia is a rare, autosomal recessive inborn error of metabolism belonging to the family of urea cycle disorders It primarily impairs the hepatic clearance of waste nitrogen, leading to profound systemic hyperammonemia and the toxic accumulation of citrulline and other metabolites in the blood, urine, and cerebrospinal fluid The condition encompasses type I (classic citrullinemia, caused by argininosuccinate synthetase deficiency) and type II (citrin deficiency), which affect both pediatr...

Citrullinemia is a rare, autosomal recessive inborn error of metabolism belonging to the family of urea cycle disorders The condition encompasses type I (classic citrullinemia, caused by argininosuccinate synthetase deficiency) and type II (citrin deficiency), which affect both pediatric and adult populations

It primarily impairs the hepatic clearance of waste nitrogen, leading to profound systemic hyperammonemia and the toxic accumulation of citrulline and other metabolites in the blood, urine, and cerebrospinal fluid

Clinically, it presents across a spectrum ranging from catastrophic neonatal encephalopathy—characterized by lethargy, poor feeding, seizures, cerebral edema, and coma—to later-onset neuropsychiatric manifestations, ataxia, and hepatic dysfunction triggered by metabolic stress or catabolism