Criglar-Najjar’s syndrome

Rare autonomic recessive genetic disorder.

Type I associated with a severe process with complete lack of hepatic glucuronyl transferase.

Glucuronyl transferase the enzyme needed for conjugation of indirect to direct bilirubin.

Suspected to be present in neonates with severe jaundice at birth.

Neonatal jaundice with indirect bilirubin of greater than 30 times normal.

Treatment includes phototherapy, exchange transfusion, heme oxygenase inhibitors, cholestyramine and liver transplant.

Process is fatal by 18 months after birth if the process is not treated.