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Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.

Publication ,  Journal Article
Bennett, MJ; Rinaldo, P; Millington, DS; Tanaka, K; Yokota, I; Coates, PM
Published in: Pediatr Pathol
1991

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder of fatty acid oxidation associated with sudden death in infants and, in its fulminant form(s), a Reye-like syndrome. In an 18-month-old female who died suddenly and unexpectedly, the postmortem diagnosis of MCAD deficiency was made by analysis of organic acids, acylglycines, and acylcarnitines and by analysis of the most common mutation causing MCAD deficiency (A985G) in a sample of heart blood obtained at autopsy and frozen at -20 degrees C for 8 months. The patient was homozygous for A985G and metabolites characteristic of MCAD deficiency were identified. Parents and an older sibling were heterozygous for A985G. The mother was 6 months pregnant when the results were known. At the birth of her male infant, blood spot cards and urine were obtained. The infant was homozygous for A985G by analysis of DNA extracted from blood spots and he excreted metabolites characteristic of MCAD deficiency. These results demonstrate the use of novel molecular and metabolite analysis in making the postmortem diagnosis of MCAD deficiency. The neonatal diagnosis of an affected sib permits the institution of appropriate dietary measures to prevent potentially fatal episodes of illness.

Duke Scholars

Published In

Pediatr Pathol

DOI

ISSN

0277-0938

Publication Date

1991

Volume

11

Issue

6

Start / End Page

889 / 895

Location

United States

Related Subject Headings

  • Sudden Infant Death
  • Polymerase Chain Reaction
  • Mutation
  • Molecular Sequence Data
  • Infant
  • Humans
  • Homozygote
  • Female
  • DNA
  • Child, Preschool
 

Citation

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ICMJE
MLA
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Bennett, M. J., Rinaldo, P., Millington, D. S., Tanaka, K., Yokota, I., & Coates, P. M. (1991). Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol, 11(6), 889–895. https://doi.org/10.3109/15513819109065485
Bennett, M. J., P. Rinaldo, D. S. Millington, K. Tanaka, I. Yokota, and P. M. Coates. “Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.Pediatr Pathol 11, no. 6 (1991): 889–95. https://doi.org/10.3109/15513819109065485.
Bennett MJ, Rinaldo P, Millington DS, Tanaka K, Yokota I, Coates PM. Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol. 1991;11(6):889–95.
Bennett, M. J., et al. “Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.Pediatr Pathol, vol. 11, no. 6, 1991, pp. 889–95. Pubmed, doi:10.3109/15513819109065485.
Bennett MJ, Rinaldo P, Millington DS, Tanaka K, Yokota I, Coates PM. Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol. 1991;11(6):889–895.

Published In

Pediatr Pathol

DOI

ISSN

0277-0938

Publication Date

1991

Volume

11

Issue

6

Start / End Page

889 / 895

Location

United States

Related Subject Headings

  • Sudden Infant Death
  • Polymerase Chain Reaction
  • Mutation
  • Molecular Sequence Data
  • Infant
  • Humans
  • Homozygote
  • Female
  • DNA
  • Child, Preschool