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Intermittent maple syrup urine disease
1 OMIM reference -
3 associated genes
8 connected diseases
No signs/symptoms info
Disease Type of connection
Classic maple syrup urine disease
Intermediate maple syrup urine disease
Thiamine-responsive maple syrup urine disease
Pseudohypoaldosteronism type 2E
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Young adult-onset Parkinsonism
Leigh syndrome with nephrotic syndrome
Pyruvate dehydrogenase E3 deficiency
Synonym(s):
- Intermittent BCKD deficiency
- Intermittent MSUD
- Intermittent branched-chain 2-ketoacid dehydrogenase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BCKDHA P12694608348
BCKDHB P21953248611
DBT P11182248610
No signs/symptoms info available.