An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, le...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on maple syrup urine disease is limited due to its extreme rarity, with a prevalence of 1-9 in 1,000,000. The genetic basis was identified relatively recently, and systematic clinical studies have been sparse. This has resulted in a lack of comprehensive phenotype documentation, making it challenging to characterize the full clinical spectrum of the disease.
To navigate your care effectively, seek a metabolic specialist or a geneticist with experience in inherited metabolic disorders. They can provide insights into managing the condition and may recommend genetic counseling for family planning. Additionally, consider connecting with flok Health, a patient organization that offers resources and support for individuals affected by MSUD. Participating in patient registries or natural history studies may also provide valuable information for your case and contribute to broader research efforts.
Currently, there are two orphan drugs designated for maple syrup urine disease: a modified version of a leucine decarboxylase enzyme derived from Planctomycetaceae bacterium and sodium phenylbutyrate. There are also seven active clinical trials investigating various aspects of the disease. For more details, you can explore these trials at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=maple%20syrup%20urine%20disease.
Actionable guidance for navigating care for maple syrup urine disease
To navigate your care effectively, seek a metabolic specialist or a geneticist with experience in inherited metabolic disorders. They can provide insights into managing the condition and may recommend genetic counseling for family planning. Additionally, consider connecting with flok Health, a patient organization that offers resources and support for individuals affected by MSUD. Participating in patient registries or natural history studies may also provide valuable information for your case and contribute to broader research efforts.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the maple syrup urine disease community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.