Article
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Molecular genetics and metabolism - 1 Dec 2014
Banka Siddharth, de Goede Christian, Yue Wyatt W, Morris Andrew A M, von Bremen Beate, Chandler Kate E, Feichtinger René G, Hart Claire, Khan Nasaim, Lunzer Verena, Mataković Lavinija, Marquardt Thorsten, Makowski Christine, Prokisch Holger, Debus Otfried, Nosaka Kazuto, Sonwalkar Hemant, Zimmermann Franz A, Sperl Wolfgang, Mayr Johannes A
Abstract excerpt
Thiamine pyrophosphokinase (TPK) produces thiamine pyrophosphate, a cofactor for a number of enzymes, including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase. Episodic encephalopathy type thiamine metabolism dysfunction (OMIM 614458) due to TPK1 mutations is a recently described rare disorder. The mechanism of the disease, its phenotype and treatment are not entirely clear. We present two patients with...
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