3-alpha hydroxyacyl-CoA dehydrogenase deficiency

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

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)

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

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

Clinical Trials

Sources

No data available

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