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Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Thiamine-responsive maple syrup urine disease
1 OMIM reference -
3 associated genes
No signs/symptoms info
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Thiamine-responsive maple syrup urine disease

BCKDK
(UniProt - OMIM)
 BCKDHA
(UniProt - OMIM)
BCKDHB
(UniProt - OMIM)
DBT
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BCKDK
(0.76)
BCKDHA


Citations in the biomedical literature:


Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
BCKDK
Thiamine-responsive maple syrup urine disease
BCKDHA BCKDHB DBT



Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Thiamine-responsive maple syrup urine disease

Synonym(s):
(no synonyms)

Synonym(s):
- Thiamine-responsive BCKD deficiency
- Thiamine-responsive MSUD
- Thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.