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Crigler-Najjar syndrome type 1

Pathology: - deficiency in UDP-glucuronyltransferase 1 - onset of severe unconjugated hyperbilirubinemia 3-4 days after birth - afflicted infants usually die of kernicterus within 1st year of life Genetics: - autosomal recessive - associated with defects in UGT1A1 gene Laboratory: - serum unconjugated bilirubin leves are 20-50 mg/dL - UGT1A1 gene mutation

Related

bilirubin

General

Crigler-Najjar syndrome

Properties

ACCUMULATION: bilirubin DEFICIENCY: UDP-glucuronosyltransferase-1A

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 218800