adult-onset type II citrullinemia

A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1

A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.

Signs and symptoms

• Elevated plasma citrulline
• Hepatic steatosis
• Elevated circulating alanine aminotransferase concentration
• Elevated gamma-glutamyltransferase level
• Hepatic fibrosis
• Hyperammonemia
• Hypertriglyceridemia
• Protein craving
• Argininosuccinic aciduria
• Cerebral edema

Also known as: CTLN2; adolescent- or adult-onset citrin deficiency; citrin deficiency