Citrin Deficiency (SLC25A13)

Citrin deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene SLC25A13. While this disease is diagnosed in populations worldwide, it is more prevalent in individuals of Asian descent. There are three different presentations of this disease. Neonatal intrahepatic cholestasis caused by citrin deficiency: this presentation occurs in infants less than a year of age. Individuals are usually mildly affected with liver dysfunction that resolves with treatment, but some infants become severely ill and may require a liver transplant. Failure to thrive and dyslipidemia caused by citrin deficiency: this presentation occurs in children 1 to 2 years of age and is characterized by small size, high levels of fat in the blood, and inflammation of the pancreas. Although symptoms appear to resolve in most children, some children will later develop cirrhosis or citrullinemia type II. Citrullinemia type II: Onset is in adulthood (between ages 20 and 50) and is characterized by recurring bouts of neurologic and psychiatric symptoms. Patients may have seizures and go into a coma if untreated. The life expectancy for patients with citrin deficiency is variable and depends on the severity of symptoms and efficacy of treatment. Some patients may succumb in infancy, whereas others may be asymptomatic until after middle age. As there has been no genotype-phenotype correlation reported, it is not possible to predict the severity of symptoms based on the patients genotype.

For information about carrier frequency and residual risk, please see the residual risk table.