Acidemia (Methylmalonic)

Not yet reviewed

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

Disease overview

Genetic disease caused by defects in the metabolism of four amino acids (methionine, threonine, isoleucine and valine)

Common symptoms

Lethargyfailure to thriverecurrent vomitingacidosisdehydrationrespiratory distressdiminished muscle tonedevelopmental retardationseizures and/or an enlarged liver [ ]

When to suspect

  • Recommendation 1

    Methylmalonic acid levels elevated upon amniocentesis or chorionic villus sampling [CVS]

How to test

  • Recommendation 1

    Methylmalonic acid levels elevated upon amniocentesis or chorionic villus sampling [CVS]

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

    Symptom specific

Primary care

  • Recommendation 1

    Low-protein diet with avoidance of specific amino acids, supplementation with medical foods for nutritional balance, and administration of vitamin B12 in responsive variants to correct metabolic defects

Further support

  • Recommendation 1

    ~1700 doctors worldwide

  • Recommendation 2

    via patient organizations . 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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