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Related Experiment Videos

Carnitine palmityl transferase I deficiency.

A I Al-Aqeel1, M S Rashed, J P Ruiter

  • 1Department of Pediatrics, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia.

Saudi Medical Journal
|December 18, 2001
PubMed
Summary

Carnitine palmityl transferase I deficiency can cause Reye-like syndrome in children. Early diagnosis and dietary management with medium chain triglycerides lead to good outcomes.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Carnitine palmityl transferase I (CPT I) is crucial for transporting long-chain fatty acids into mitochondria for energy production.
  • CPT I deficiency impairs fatty acid beta-oxidation, leading to reduced energy and potential Reye-like symptoms.

Observation:

  • A family with three siblings, born from a consanguineous marriage, presented with symptoms including unconsciousness, hepatomegaly, hypoglycemia, and hyperammonemia.
  • Affected siblings exhibited elevated free carnitine and diminished long-chain acyl carnitines in their acyl carnitine profile.
  • Liver biopsies revealed steatosis in the affected individuals.

Findings:

  • Acyl carnitine profiles and subsequent enzyme analyses confirmed Carnitine palmityl transferase I deficiency in the siblings.

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  • The clinical presentation mimicked Reye syndrome, highlighting CPT I deficiency as a potential underlying cause.

    • Implications:

    • CPT I deficiency is a significant etiological factor for Reye-like syndrome.
    • Early detection and prompt treatment with a specific diet (high carbohydrate, low long-chain fatty acids, supplemented with medium-chain triglycerides) can lead to favorable clinical outcomes.