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GENATLAS PHENOTYPE

last update : 23/06/2006

Symbol	DLATD
Location	11q23.1
Name	pyruvate dehydrogenase E2 deficiency
Other name(s)	dihydrolipoamide S-acetyltransferase deficiency
Corresponding gene	DLAT
Other symbol(s)	DLTA, PDCE2
Main clinical features	hyperammonemia and lactic acidosis, profound psychomotor retardation and microcephaly, nystagmus, jerky head movements, and episodic clenching of hands with deficiency in the E2 dihydrolipoyl transacetylase activity of the pyruvate dehydrogenase complex and at the MRI abnormal signals inthe globus pallidus bilaterally
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)

Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex (PDHA1)