Crigler-Najjar syndrome type 1
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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
More general terms
References
- ↑ Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 361-62, 371-73
- ↑ OMIM https://mirror.omim.org/entry/218800