Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome

Raanan Arens, David Gozal, Karen Jain, Shamshad Muscati, Eva T. Heuser, Julian C. Williams, Thomas G. Keens, Sally L. Davidso Ward

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

Disorders of fatty acid β-oxidation have been sugested as playing a significant role in the sudden infant death syndrome (SIDS). To elucidate the role of medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in SIDS, we Identified all cases of SIDS occurring in Los Angeles County between January 1986 through December 1991. A total of 1304 SIDS deaths were Identified; tissue samples were collected in 1236 cases (94.8%). Extraction of DNA was successful in 1224 tissue samples (93.9%), which were examined for the presence of the G985 mutation, Identified as occurring in more than 88% of affected cases of MCAD deficiency. Three heterozygotes and no homozygotes were Identified; this incidence does not differ from that reported in the general population. Review of the pathologic specimens from the identified heterozygotes and from 18 ethnic-, age-, and sex-matched control subjects revealed significant fatty intiltration of all organs examined in one of the three heterozygotes and in none of the control subjects. We conclude that MCAD deficiency does not play a significant role in the causation of SIDS.

Original languageEnglish (US)
Pages (from-to)715-718
Number of pages4
JournalThe Journal of Pediatrics
Volume122
Issue number5
DOIs
StatePublished - 1993
Externally publishedYes

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Sudden Infant Death
Heterozygote
Los Angeles
Homozygote
Causality
Fatty Acids
Medium chain acyl CoA dehydrogenase deficiency
Mutation
DNA
Incidence
Population

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. / Arens, Raanan; Gozal, David; Jain, Karen; Muscati, Shamshad; Heuser, Eva T.; Williams, Julian C.; Keens, Thomas G.; Davidso Ward, Sally L.

In: The Journal of Pediatrics, Vol. 122, No. 5, 1993, p. 715-718.

Research output: Contribution to journalArticle

Arens, R, Gozal, D, Jain, K, Muscati, S, Heuser, ET, Williams, JC, Keens, TG & Davidso Ward, SL 1993, 'Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome', The Journal of Pediatrics, vol. 122, no. 5, pp. 715-718. https://doi.org/10.1016/S0022-3476(06)80010-7
Arens, Raanan ; Gozal, David ; Jain, Karen ; Muscati, Shamshad ; Heuser, Eva T. ; Williams, Julian C. ; Keens, Thomas G. ; Davidso Ward, Sally L. / Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. In: The Journal of Pediatrics. 1993 ; Vol. 122, No. 5. pp. 715-718.
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abstract = "Disorders of fatty acid β-oxidation have been sugested as playing a significant role in the sudden infant death syndrome (SIDS). To elucidate the role of medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in SIDS, we Identified all cases of SIDS occurring in Los Angeles County between January 1986 through December 1991. A total of 1304 SIDS deaths were Identified; tissue samples were collected in 1236 cases (94.8{\%}). Extraction of DNA was successful in 1224 tissue samples (93.9{\%}), which were examined for the presence of the G985 mutation, Identified as occurring in more than 88{\%} of affected cases of MCAD deficiency. Three heterozygotes and no homozygotes were Identified; this incidence does not differ from that reported in the general population. Review of the pathologic specimens from the identified heterozygotes and from 18 ethnic-, age-, and sex-matched control subjects revealed significant fatty intiltration of all organs examined in one of the three heterozygotes and in none of the control subjects. We conclude that MCAD deficiency does not play a significant role in the causation of SIDS.",
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AU - Williams, Julian C.

AU - Keens, Thomas G.

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