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

doi:10.1067/mpd.2000.107467

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 journal › Article › peer-review

20 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 language	English (US)
Pages (from-to)	257-259
Number of pages	3
Journal	Journal of Pediatrics
Volume	137
Issue number	2
DOIs	https://doi.org/10.1067/mpd.2000.107467
State	Published - 2000

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1067/mpd.2000.107467

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

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.",

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

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T2 - A family study

AU - Treacy, Eileen P.

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AU - Boriack, Richard L.

AU - Vockley, Jerry

AU - O'Brien, Laurie K.

AU - Jones, Patricia M.

AU - Bennett, Michael J.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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