What happens in Crigler-Najjar syndrome?
People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice).
What is the difference between Gilbert syndrome and Crigler-Najjar syndrome?
In the case of Gilbert syndrome two bases are inserted into the promoter of the gene. In Crigler-Najjar syndrome type I and II mutations lead to the exchange of amino acids, changes of the reading frame or to stop codons.
What are the symptoms of Crigler-Najjar syndrome?
Crigler-Najjar Syndrome Symptoms in Children
- Slurred speech.
- Difficulty swallowing.
- Change in gait, staggering, frequent falling.
What enzyme is deficient in Crigler-Najjar?
Crigler-Najjar syndrome is caused by an absence or profoundly decreased level of the enzyme UDP-glucuronosyltransferase due to a genetic defect in the UGT1A1 gene. Severe hyperbilirubinemia has the potential to cause irreversible brain damage. Hence, prompt diagnosis and treatment is of utmost importance.
What is Lucy Driscoll syndrome?
Lucey-Driscoll syndrome, also known as transient familial hyperbilirubinemia, is a rare condition that leads to very high levels of bilirubin in a newborn’s blood. Bilirubin comes from the breakdown of red blood cells and is handled by the liver.
What is Crigler-Najjar syndrome type 2?
Crigler-Najjar syndrome type II is a milder disorder than type I. Affected infants develop jaundice, which increases during times when an infant is sick (concurrent illness), has not eaten for an extended period of time (prolonged fasting) or is under general anesthesia.
Which condition is caused by deficient secretion of bilirubin into the bile canaliculi?
Dubin-Johnson syndrome is characterized by defective bilirubin excretion into bile.