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GENATLAS PHENOTYPE

last update : 29-04-2013

Symbol	PDHB
Location	3p21.1-p14.3
Name	pyruvate dehydrogenase deficiency, eta polypeptide
Other name(s)	pyruvate dehydrogenase deficiency, E1beta subunit
Corresponding gene	PDHB
related resource	MITOP database
Main clinical features	severe primary lactic acidosis, neurological dysfunction, and early death neonatal lactic acidosis, followed by failure to thrive and seizures with blood lactate very high and respiratory insufficiency
Genetic determination
Function/system disorder	metabolism/organic acid
	neurology
Type	disease

Gene product

Name	pyruvate dehydrogenase, E1 beta subunit (PDHB)

Remark(s)