Variants
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Long chain acyl-CoA dehydrogenase deficiency

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Description

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

NCI

  • Mode of Inheritance

    VARIANTS

    2

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM
    • Orphanet

      99900

    • HPO
    • Medgen

      C0220711

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