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

doi:10.1016/S0022-3476(06)80010-7

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 journal › Article › peer-review

52 Scopus citations

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 language	English (US)
Pages (from-to)	715-718
Number of pages	4
Journal	The Journal of Pediatrics
Volume	122
Issue number	5
DOIs	https://doi.org/10.1016/S0022-3476(06)80010-7
State	Published - May 1993
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(06)80010-7

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@article{4522a5cd168d4315b00b53d01d628455,

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

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.",

author = "Raanan Arens and David Gozal and Karen Jain and Shamshad Muscati and Heuser, {Eva T.} and Williams, {Julian C.} and Keens, {Thomas G.} and {Davidso Ward}, {Sally L.}",

note = "Funding Information: Supported in part by grants from the National Institute of Child Health and Human Development (i ROI HD22696-01AI); the National Sudden Infant Death Syndrome Alliance; the SIDS Foundation of Southern California; the SIDS Foundation of Washington; the Los Angeles County, Orange County, San Diego County, Inland Empire, and Kern County Chapters of the Guild for Infant Survival; the Junior Women's Club of Orange; the Ruth and Vernon Taylor Foundation; a Will Rogers Foundation Fellowship and an American Physician Fellowship Inc. for Medicine in Israel (Dr. Arens); and an H. N. and Frances C. Berger Foundation grant and a Parker B. Francis Fellowship for Pulmonary Research (Dr. Gozal). Submitted for publication Aug. 31, 1992; accepted Dec. 4, 1992. Reprint requests: Sally L. Davidson Ward, MD, Division of Neonatology and Pediatric Pulmonology, Childrens Hospital Los Angeles, Box 83, 4650 Sunset Blvd., Los Angeles, CA 90027. Copyright 9 1993 by Mosby-Year Book, Inc. 0022-3476/93\]$1.00+.10 9/20/44615",

year = "1993",

month = may,

doi = "10.1016/S0022-3476(06)80010-7",

language = "English (US)",

volume = "122",

pages = "715--718",

journal = "Journal of Pediatrics",

issn = "0022-3476",

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T1 - Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome

AU - Arens, Raanan

AU - Gozal, David

AU - Jain, Karen

AU - Muscati, Shamshad

AU - Heuser, Eva T.

AU - Williams, Julian C.

AU - Keens, Thomas G.

AU - Davidso Ward, Sally L.

N1 - Funding Information: Supported in part by grants from the National Institute of Child Health and Human Development (i ROI HD22696-01AI); the National Sudden Infant Death Syndrome Alliance; the SIDS Foundation of Southern California; the SIDS Foundation of Washington; the Los Angeles County, Orange County, San Diego County, Inland Empire, and Kern County Chapters of the Guild for Infant Survival; the Junior Women's Club of Orange; the Ruth and Vernon Taylor Foundation; a Will Rogers Foundation Fellowship and an American Physician Fellowship Inc. for Medicine in Israel (Dr. Arens); and an H. N. and Frances C. Berger Foundation grant and a Parker B. Francis Fellowship for Pulmonary Research (Dr. Gozal). Submitted for publication Aug. 31, 1992; accepted Dec. 4, 1992. Reprint requests: Sally L. Davidson Ward, MD, Division of Neonatology and Pediatric Pulmonology, Childrens Hospital Los Angeles, Box 83, 4650 Sunset Blvd., Los Angeles, CA 90027. Copyright 9 1993 by Mosby-Year Book, Inc. 0022-3476/93\]$1.00+.10 9/20/44615

PY - 1993/5

Y1 - 1993/5

N2 - 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.

AB - 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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JF - Journal of Pediatrics

SN - 0022-3476

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ER -

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

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