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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency

PDHB DLAT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDHB
(0.99)
DLAT



Citations in the biomedical literature:


Pyruvate dehydrogenase E1-beta deficiency
PDHB
Pyruvate dehydrogenase E2 deficiency
DLAT



Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency

Synonym(s):
- PDHBD
- Pyruvate dehydrogenase complex E1 component subunit beta deficiency

Synonym(s):
- Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Pyruvate dehydrogenase complex component E2 deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: child / adolescent
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.