Maple syrup urine disease type 2
- Synonyms
- MSUD type 2; Maple syrup urine disease, type II
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 (11 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Ketoacidosis
Ketoacidosis
- MedGen UID: 67434
- Concept ID: C0220982
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Ketoacidosis
- Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Opisthotonus
Opisthotonus
- MedGen UID: 56246
- Concept ID: C0151818
- Finding: Sign or Symptom
Abnormality of the nervous system
- Lethargy
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