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Carnitine deficiency disorders in children.

Charles A Stanley1

  • 1Division of Endocrinology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. stanleyc@email.chop.edu

Annals of the New York Academy of Sciences
|December 14, 2004
PubMed
Summary

Carnitine is essential for fatty acid oxidation, crucial for energy in heart and muscle. Carnitine supplementation may benefit specific genetic disorders and antibiotic treatments causing carnitine depletion.

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Area of Science:

  • Biochemistry
  • Cellular Metabolism
  • Nutritional Science

Background:

  • Mitochondrial fatty acid oxidation is vital for energy in cardiac and skeletal muscle.
  • The carnitine shuttle facilitates long-chain fatty acid transport into mitochondria for beta-oxidation.
  • Carnitine is obtained from diet and endogenous synthesis, with most stored intracellularly.

Purpose of the Study:

  • To explore the role of carnitine in energy production and its potential therapeutic benefits in metabolic disorders.
  • To investigate conditions where carnitine supply becomes limiting for fatty acid oxidation.
  • To assess the diagnostic utility of acylcarnitine profiling in neonates.

Main Methods:

  • Review of carnitine metabolism, transport, and storage.

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  • Analysis of genetic and acquired disorders affecting carnitine levels.
  • Discussion of diagnostic applications of tandem mass-spectrometry for acylcarnitine profiles.
  • Evaluation of carnitine supplementation in various clinical contexts.

    • Main Results:

    • Carnitine deficiency can impair fatty acid oxidation, leading to conditions like cardiomyopathy and hypoglycemia in infants.
    • Pivalate-conjugated antibiotics can deplete carnitine, potentially limiting fatty acid oxidation.
    • Acylcarnitine profiling aids in diagnosing genetic fatty acid oxidation defects in newborns.
    • Carnitine levels are generally stable in adults on vegetarian diets but can be reduced by hyperalimentation in infants.

    Conclusions:

    • Carnitine plays a critical role in cellular energy metabolism, particularly fatty acid oxidation.
    • Carnitine supplementation is essential for survival in specific genetic carnitine transporter defects.
    • Carnitine depletion from certain medications necessitates monitoring and potential supplementation.
    • Further research is needed to confirm the efficacy of carnitine in other conditions like secondary carnitine deficiency and ischemia.