ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Pyruvate dehydrogenase E1-alpha deficiency

Argininosuccinic aciduria


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDHA1	(0.7)	ASL

Citations in the biomedical literature:

Pyruvate dehydrogenase E1-alpha deficiency		Argininosuccinic aciduria
	Synonym(s): - PDHAD - Pyruvate decarboxylase deficiency - Pyruvate dehydrogenase complex E1 component subunit alpha deficiency		Synonym(s): - Argininosuccinase 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 genetic 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: child / adolescent Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056807

Argininosuccinic aciduria
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance Frequent - Ataxia / incoordination / trouble of the equilibrium - EEG anomalies - Hyperammonemia - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism - Storage liver disease Occasional - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
Pyruvate dehydrogenase E1-alpha deficiency
(no data available)