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 | |
| State | Published - 1993 |
| Externally published | Yes |
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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 journal › Article
}
TY - JOUR
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.
PY - 1993
Y1 - 1993
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.
UR - http://www.scopus.com/inward/record.url?scp=0027167804&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027167804&partnerID=8YFLogxK
U2 - 10.1016/S0022-3476(06)80010-7
DO - 10.1016/S0022-3476(06)80010-7
M3 - Article
C2 - 8496748
AN - SCOPUS:0027167804
VL - 122
SP - 715
EP - 718
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 5
ER -