A genetically controlled condition in which bilirubin cannot be formed, leading to jaundice or even brain damage.
One of two familial forms of congenital hyperbilirubinemia associated with brain damage as a result of bilirubin deposition in the brain (kernicterus). The syndrome is caused by an enzyme deficiency in the liver that causes faulty bilirubin conjugation. It is transmitted as an autosomal recessive trait; death may occur within 15 months after birth in the more severe form.
This is a rare genetic disorder that manifests in early childhood and is characterized by the deficiency or absence of the liver enzyme responsible for breaking down bilirubin, the yellowish pigment found in bile. Bilirubin breakdown is crucial for its excretion from the body.
Children affected by Crigler-Najjar syndrome experience jaundice, which is characterized by the yellowing of the skin and whites of the eyes. This discoloration occurs due to the accumulation of bilirubin in the bloodstream. In some cases, children may completely lack the liver enzyme responsible for bilirubin breakdown, leading to a fatal outcome by around two years of age. However, there are instances where children have insufficient levels of the enzyme, allowing them to live into adulthood. For individuals with severe cases, a liver transplant may be the only viable and effective treatment option for this syndrome.