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Pyruvate dehydrogenase E3 deficiency
1 OMIM reference -
1 associated gene
24 connected diseases
11 signs/symptoms
Disease Type of connection
Leigh syndrome with nephrotic syndrome
Pyruvate dehydrogenase E3-binding protein deficiency
Oxoglutaricaciduria
Fibronectin glomerulopathy
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Dedifferentiated liposarcoma
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Huntington disease
Juvenile Huntington disease
Prolidase deficiency
Well-differentiated liposarcoma
Pyruvate dehydrogenase E2 deficiency
Classic maple syrup urine disease
Intermediate maple syrup urine disease
Intermittent maple syrup urine disease
Isolated CoQ-cytochrome C reductase deficiency
Isolated NADH-CoQ reductase deficiency
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Reticular dysgenesis
Thiamine-responsive maple syrup urine disease
Translocation renal cell carcinoma
Synonym(s):
- DLD deficiency
- Dihydrolipoamide dehydrogenase deficiency
- E3-deficient maple syrup urine 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 -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DLD P09622238331
Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Organic acid metabolism anomalies

Frequent
- Abnormal gait
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Movement disorder

Occasional
- Hepatocellular liver disease / hepatic failure
- Hypoglycemia