Maple syrup urine disease type 1B
- Synonyms
- MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex; MSUD type 3 (formerly); MSUD type IB
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Kevin A Strauss
- Erik G Puffenberger
- Vincent J Carson
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (30 available)
Biochemical Genetics Tests
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