neonatal-onset type II citrullinemia

info · Genetic

A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.

Signs and symptoms

Hypermethioninemia
Hyperthreoninemia
Hypertyrosinemia
Elevated circulating alkaline phosphatase concentration
Hyperlysinemia
Increased serum bile acid concentration
Elevated circulating alanine aminotransferase concentration
Macrovesicular hepatic steatosis
Elevated circulating aspartate aminotransferase concentration
Elevated plasma citrulline

Also known as: neonatal or infantile-onset citrin deficiency; neonatal-onset type 2 citrullinemia