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    Metabolic Disorders


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.