Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II

Brad Angle*, Barbara K. Burton

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

42 Scopus citations

Abstract

Glutaric acidemia type II (GAII) is an inborn error of metabolism caused by defects in electron transport flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO) and typically presents with hypo- or nonketotic hypoglycemia and metabolic acidosis. The most severe forms present in early infancy and are associated with a high mortality rate. The disorder can now be detected by expanded newborn screening using tandem mass spectrometry (MS/MS), providing the opportunity for diagnosis and treatment in asymptomatic infants. We report here three infants who, despite diagnosis and treatment in the neonatal period, experienced either unexpected sudden death or an acute life-threatening event (ALTE) during the first year of life. The possible etiologies of these events and the potential impact of expanded newborn screening on the long-term outcome of GAII are discussed.

Original languageEnglish (US)
Pages (from-to)36-39
Number of pages4
JournalMolecular Genetics and Metabolism
Volume93
Issue number1
DOIs
StatePublished - Jan 2008

Keywords

  • ETF-ubiquinone oxidoreductase
  • Electron transfer flavoprotein
  • Expanded newborn screening
  • Glutaric acidemia type II
  • Multiple acyl CoA dehydrogenase deficiency
  • Sudden death

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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