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 journalArticle

14 Citations (Scopus)

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

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Coenzyme A
Fasting
Oxidoreductases
Liver
Infant Death

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Treacy, E. P., Lambert, D. M., Barnes, R., Boriack, R. L., Vockley, J., O'Brien, L. K., ... Bennett, M. J. (2000). Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study. Journal of Pediatrics, 137(2), 257-259. https://doi.org/10.1067/mpd.2000.107467

Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death : A family study. / Treacy, Eileen P.; Lambert, Deborah M.; Barnes, Robert; Boriack, Richard L.; Vockley, Jerry; O'Brien, Laurie K.; Jones, Patricia M.; Bennett, Michael J.

In: Journal of Pediatrics, Vol. 137, No. 2, 2000, p. 257-259.

Research output: Contribution to journalArticle

Treacy, EP, Lambert, DM, Barnes, R, Boriack, RL, Vockley, J, O'Brien, LK, Jones, PM & Bennett, MJ 2000, 'Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study', Journal of Pediatrics, vol. 137, no. 2, pp. 257-259. https://doi.org/10.1067/mpd.2000.107467
Treacy, Eileen P. ; Lambert, Deborah M. ; Barnes, Robert ; Boriack, Richard L. ; Vockley, Jerry ; O'Brien, Laurie K. ; Jones, Patricia M. ; Bennett, Michael J. / Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death : A family study. In: Journal of Pediatrics. 2000 ; Vol. 137, No. 2. pp. 257-259.
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