Maple Syrup Urine Disease

Not yet reviewed

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

Disease overview

Branched-chain ketoacid dehydrogenase deficiency impairs metabolism of leucine, isoleucine, and valine; these amino acids accumulate and cause neurologic dysfunction

Common symptoms

Presents classically in infancy (older age of onset is possible but rare) with poor feedingvomitingspasticityseizureand possibly comaclassically produces a maple syrup odor to the urinesweatand cerumen.

When to suspect

  • Recommendation 1

    All 50 US states screen for MSUD at birth

  • Recommendation 2

    most US-born children will have been tested via blood-spot assessment of amino acid ratios. Diagnosis must be confirmed through molecular genetic testing

  • Recommendation 3

    there are other abnormalities such as hydroxyprolinemia which may cause a false positive amino acid ratio.

How to test

  • Recommendation 1

    All 50 US states screen for MSUD at birth

  • Recommendation 2

    most US-born children will have been tested via blood-spot assessment of amino acid ratios. Diagnosis must be confirmed through molecular genetic testing

  • Recommendation 3

    there are other abnormalities such as hydroxyprolinemia which may cause a false positive amino acid ratio.

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

    All patients require dietary modification to maintain an optimal level of branched-chain amino acids. Careful dietary planning with an MSUD nutritional specialist is necessary to determine appropriate amino acid intake, which will need to be adjusted as the patient ages. Synthetic MSUD-specific protein powder formulas are available.

Primary care

  • Recommendation 1

    Ongoing dietary monitoring for appropriate levels of branched-chain amino acids is needed. Patients may have metabolic crises during times of increased protein catabolism

  • Recommendation 2

    crises should be managed with aggressive supplemental nutrition and administration of insulin to favor protein anabolism. Dialysis may be needed to lower high serum amino acid concentrations.

Further support

  • Recommendation 1

    All patients should work with a nutrition specialist with experience treating MSUD to develop the correct diet plan. The MSUD Family Support Group offers a interactive page to find nearby 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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