Thiamine pyrophosphokinase deficiency

Definition

Thiamine pyrophosphokinase (TPK) deficiency is a recently described rare disorder that has episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of thiamine metabolism dysfunction syndrome caused by TPK1 mutations. TPK produces thiamine pyrophosphate (TPP). TPP is a cofactor for enzymes important in a range of fundamental processes such as cellular respiration. It has been reported that early thiamine supplementation prevented encephalopathic episodes and improved developmental progression.

References:

[1]. Siddharth Banka, et al. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. Mol Genet Metab. 2014 Dec;113(4):301-6. [Content Brief]

生物医学辞典

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