Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome

Pediatr Blood Cancer. 2015 Sep;62(9):1680-1. doi: 10.1002/pbc.25500. Epub 2015 Mar 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
  • Codon, Nonsense
  • Crigler-Najjar Syndrome / complications
  • Crigler-Najjar Syndrome / genetics*
  • Diagnosis, Differential
  • Exons / genetics
  • Female
  • Gilbert Disease / complications
  • Gilbert Disease / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Glucuronosyltransferase / chemistry
  • Glucuronosyltransferase / genetics*
  • Glucuronosyltransferase / metabolism
  • Heterozygote
  • Humans
  • Hyperbilirubinemia, Neonatal / diagnosis*
  • Hyperbilirubinemia, Neonatal / etiology
  • Infant, Newborn
  • Jaundice, Neonatal / diagnosis
  • Male
  • Promoter Regions, Genetic / genetics
  • Protein Transport
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics
  • Pyruvate Metabolism, Inborn Errors / genetics*

Substances

  • Codon, Nonsense
  • UGT1A1 enzyme
  • Glucuronosyltransferase
  • Pyruvate Kinase

Supplementary concepts

  • Crigler Najjar syndrome, type 2
  • Pyruvate Kinase Deficiency of Red Cells