3-alpha hydroxyacyl-CoA dehydrogenase deficiency

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Disease overview

A rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting)

Common symptoms

Lethargyhypoglycemiahypotoniadelayed development of milestonesliver problemsmyopiarhabdomyolysis

WHEN TO SUSPECT

  • Recommendation 1

    Tandem mass spectrometry (MS/MS)

HOW TO TEST

  • Recommendation 1

    Tandem mass spectrometry (MS/MS)

TREATMENT

  • Recommendation 1

    Therapy includes fasting avoidance, a diet restricted in long-chain fatty acids and supplemented with both medium chain triglycerides (MCT) and essential fatty acids.

PRIMARY CARE

  • Recommendation 1

    Dietary restriction and Dietary adherence

FURTHER SUPPORT

  • Recommendation 1

    Mito Action Foundation reccomends various clinics . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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