Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient

Blood Cells Mol Dis. 2012 Aug 15;49(2):118-9. doi: 10.1016/j.bcmd.2012.05.004. Epub 2012 May 25.

Authors

Angelo Minucci, Giulia Canu, Ester Tellone, Bruno Giardina, Cecilia Zuppi, Ettore Capoluongo

PMID: 22633750
DOI: 10.1016/j.bcmd.2012.05.004

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Crigler-Najjar Syndrome / complications
Crigler-Najjar Syndrome / enzymology
Crigler-Najjar Syndrome / genetics*
DNA Mutational Analysis
Genetic Heterogeneity
Genotype
Glucosephosphate Dehydrogenase / genetics*
Glucosephosphate Dehydrogenase Deficiency / complications
Glucosephosphate Dehydrogenase Deficiency / enzymology
Glucosephosphate Dehydrogenase Deficiency / genetics*
Glucuronosyltransferase / genetics*
Humans
Hyperbilirubinemia / complications
Hyperbilirubinemia / enzymology
Hyperbilirubinemia / genetics*
Italy
Male
Mutation
Phenotype
Promoter Regions, Genetic

Substances

Glucosephosphate Dehydrogenase
UGT1A1 enzyme
Glucuronosyltransferase