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Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.

Publication ,  Journal Article
McConkie-Rosell, A; Iafolla, AK
Published in: J Genet Couns
March 1993

Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an apparently healthy infant under 1 year of age. Routine autopsies often provide few clues as to the cause of death and rarely include a biochemical evaluation. Genetic counseling for SIDS can be difficult as recurrence risks vary depending on the age at death and the number of deaths which have occurred in the family. Biochemical disorders may account for up to 5% of SIDS. Of the metabolic disorders known to be involved in SIDS, the most commonly found is medium-chain acyl CoA dehydrogenase deficiency (MCAD). MCAD is an autosomal recessive disorder of fatty acid oxidation which accounts for up to 1% of SIDS. For some families, the addition of a postmortem biochemical investigation can identify an unsuspected metabolic disorder as the cause of death. Once the diagnosis is established, accurate genetic counseling can then be provided. Metabolic testing of the surviving siblings of victims of sudden death, and the subsequent identification of those due to MCAD can prevent the tragedy of recurrent SIDS in some families. In addition, screening the survivors of an acute life threatening event (ALTE) may also prevent a recurrence.

Duke Scholars

Published In

J Genet Couns

DOI

ISSN

1059-7700

Publication Date

March 1993

Volume

2

Issue

1

Start / End Page

17 / 27

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 1103 Clinical Sciences
 

Citation

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McConkie-Rosell, A., & Iafolla, A. K. (1993). Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling. J Genet Couns, 2(1), 17–27. https://doi.org/10.1007/BF00962557
McConkie-Rosell, A., and A. K. Iafolla. “Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.J Genet Couns 2, no. 1 (March 1993): 17–27. https://doi.org/10.1007/BF00962557.
McConkie-Rosell, A., and A. K. Iafolla. “Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.J Genet Couns, vol. 2, no. 1, Mar. 1993, pp. 17–27. Pubmed, doi:10.1007/BF00962557.
Journal cover image

Published In

J Genet Couns

DOI

ISSN

1059-7700

Publication Date

March 1993

Volume

2

Issue

1

Start / End Page

17 / 27

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 1103 Clinical Sciences