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| Disease found: | Maple Syrup Urine Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Branched-chain ketoacid dehydrogenase deficiency impairs metabolism of leucine, isoleucine, and valine; these amino acids accumulate and cause neurologic dysfunction [more info] |
| Signs and Symptoms: | Presents classically in infancy (older age of onset is possible but more rare) with poor feeding, vomiting, spasticity, seizure, and possibly coma; classically produces a maple syrup odor to the urine, sweat, and cerumen. [more info] |
| Diagnosis: | All 50 US states screen for MSUD at birth; most US-born children will have been tested via blood-spot assessment of amino acid ratios. Diagnosis must be confirmed through molecular genetic testing; there are other abnormalities such as hydroxyprolinemia which may cause a false positive amino acid ratio. [more info] |
| Treatment: | 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. [more info] |
| Clinical Management: | Ongoing dietary monitoring for appropriate levels of branched-chain amino acids is needed. Patients may have metabolic crises during times of increased protein catabolism; 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. [more info] |
| Referral: | All patients should work with a nutrition specialist with experience treating MSUD to develop the correct diet plan. [more info] 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: | No U.S. studies are currently recruiting; some international studies are available. |