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Crigler-Najjar syndrome type 2

Pathology: - deficiency in UDP-glucuronyltransferase 1 Genetics: - autosomal dominant - associated with defects in UGT1A1 gene Clinical manifestations: - less severe than for Crigler-Najjar syndrome type 1 - affected individuals usually survive into adulthood without neurologic damage Laboratory: - unconjugated hyperbilirubinemia, serum unconjugated bilirubin levels in the range of 7-20 mg/dL - UGT1A1 gene mutation Management: - phenobarbital 60-180 mg/day causes a rapid decline in serum bilirubin, but treatment is rarely necessary except in the newborn

Related

bilirubin UDP-glucuronosyltransferase (UDPGT)

General

Crigler-Najjar syndrome

Properties

ACCUMULATION: bilirubin DEFICIENCY: glucuronyl transferase

Database Correlations

OMIM correlations MORBIDMAP 191740

References

  1. Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 361-62, 371-73
  2. OMIM :accession 60678