Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study

Eileen P. Treacy, Deborah M. Lambert, Robert Barnes, Richard L. Boriack, Jerry Vockley, Laurie K. O'Brien, Patricia M. Jones, Michael J. Bennett

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

We describe a case of liver-specific short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown in family members, illustrating the recessive nature of this new disor der. Heterozygous carriers did not present with biochemical abnormalities when challenged by fasting.

Original languageEnglish (US)
Pages (from-to)257-259
Number of pages3
JournalJournal of Pediatrics
Volume137
Issue number2
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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