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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease