Somdattaa Ray

Hyperkinetic Movements in an Infant with Citrullinemia Type 1

Citrullinemia type 1 is a rare inborn error of urea cycle metabolism caused by variants in the argininosuccinate synthase 1 (ASS1) gene, resulting in deficiency of the ASS1 enzyme.Affected children typically present shortly after birth with hyperammonemic encephalopathy, vomiting...