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Oxoglutaricaciduria

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Pyruvate dehydrogenase E1-beta deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

Oxoglutaricaciduria

Pyruvate dehydrogenase E1-beta deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OGDH	(0.49)	PDHB

Citations in the biomedical literature:

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

	Classification (Orphanet): - Inborn errors of metabolism - 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: neonatal/infancy Average age of death: before age 5 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 - 1 MeSH reference: C536582		External references: 1 OMIM reference - No MeSH references

Oxoglutaricaciduria
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Organic acid metabolism anomalies - Short stature / dwarfism / nanism Frequent - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct - Hydrocephaly - Movement disorder
Pyruvate dehydrogenase E1-beta deficiency
(no data available)