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Crigler–Najjar Syndrome, type I (
MIM: 218800)
Crigler–Najjar
Syndrome
is an autosomal recessive metabolic disorder characterized by
hyperbilirubinemia without haemolysis. Mutations in UGT1A1 (
MIM: 191740) ,
is the gene responsible for this disorder and is mapped to chromosome 2q.
The syndrome is characterized by intense jaundice in the first few days after
birth, often leading to death of the patient. Some studies stated the
appearance of neurologic diabilities with progression of the disease, like
mental retardation, motor impairment and convulsions.
Gilbert Syndrome (
MIM: 143500)
Gilbert’
Syndrome, a form of genetic hyperbilirubinemia, is caused by mutations in the
UGT1A1 gene (
MIM: 191740).
It is characterized by predominantly unconjugated hyperbilirubinemia, normal
liver function tests, normal liver histology, delayed clearance of bilirubin
from the blood, and mild fluctuating jaundice. It is inherited in generally
autosomal recessive manner, although among Asians autosomal dominant
inheritance is known.
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