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GENATLAS PHENOTYPE

last update : 07-12-2011

Symbol	TPK1D
Location	7q34-q35
Name	thiamin pyrophosphokinase 1 deficiency
Corresponding gene	TPK1
Main clinical features	psychomotor retardation, progressive dystonia, and lactic acidosis several crises, triggered by infections, and a clearly progressive course of the disease MRI usually shows symmetric affection of the basal ganglia and sometimes progressive brain atrophy deficiency of the thiamine pyrophosphokinase results in a decrease of the essential cofactor thiamine pyrophosphate and a predominantly neurologic disease with onset in childhood
Genetic determination	autosomal recessive
Function/system disorder	metabolism/vitamin
	neurology
Type	disease

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