ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
11 signs/symptoms

Intermittent maple syrup urine disease

Pyruvate dehydrogenase E3 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DBT	(0.49)	DLD

Citations in the biomedical literature:

Intermittent maple syrup urine disease		Pyruvate dehydrogenase E3 deficiency
	Synonym(s): - Intermittent BCKD deficiency - Intermittent MSUD - Intermittent branched-chain 2-ketoacid dehydrogenase deficiency		Synonym(s): - DLD deficiency - Dihydrolipoamide dehydrogenase deficiency - E3-deficient maple syrup urine disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic 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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		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		External references: 1 OMIM reference - No MeSH references

Pyruvate dehydrogenase E3 deficiency
	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
Intermittent maple syrup urine disease
(no data available)