Clinical Symptoms of Six Children with Thiamin Pyrophosphokinase Deficiency

J Koch,JA Mayr,T Scheffner,C Makowski,F Zimmermann,E Maier,O Debus,T Marquardt,K Schlachter,HC Schneider,H Prokisch,W Sperl,P Freisinger

Neuropediatrics（2013）

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Abstract

Aims: Thiamin (vitamin B1) is transported into the cell and then phosphorylated to thiamin pyrophosphate (TPP) by thiamin pyrophosphokinase (TPK). TPP is an essential cofactor of five enzymes, such as pyruvate dehydrogenase. The object is to show main symptoms of patients with TPK deficiency.

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