Acidemia (Methylmalonic)

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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]

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

  • Recommendation 1

    7 currently recruiting

Sources

No data available

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