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Related Experiment Videos

Medium chain acyl-CoA dehydrogenase deficiency.

E H Touma1, C Charpentier

  • 1INSERM U75, Centre Hospitalo-Universitaire Necker, Paris, France.

Archives of Disease in Childhood
|January 1, 1992
PubMed
Summary

Medium chain acyl-CoA dehydrogenase deficiency (MCAD) often presents in infancy, with crises triggered by fasting and viral illness. Early diagnosis and avoiding prolonged fasting are crucial for managing this condition.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is an inherited metabolic disorder.
  • It affects the body's ability to break down fats for energy.

Purpose of the Study:

  • To analyze clinical features, diagnostic methods, and outcomes of MCAD.
  • To highlight the importance of early diagnosis and management.

Main Methods:

  • Retrospective analysis of 65 reported cases of MCAD.
  • Review of clinical presentations, laboratory findings, and diagnostic tests.
  • Evaluation of treatment outcomes, focusing on dietary management.

Main Results:

  • Average presentation at 13.5 months, with a mean age at death of 18.5 months.
  • Crises often precipitated by fasting and viral infections, presenting with lethargy, coma, and vomiting.
  • Hypoglycemia, metabolic acidosis, elevated ammonia, and specific urinary organic acid profiles were common.
  • Carnitine deficiency and elevated medium-chain fatty acids were observed.
  • Diagnosis confirmed by oral loading tests and tissue assays.

Conclusions:

  • MCAD presents with characteristic metabolic derangements and can be fatal if untreated.
  • Early identification through biochemical markers and genetic testing is vital.
  • Avoiding prolonged fasting is the primary therapeutic strategy.

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