Journal
CLINICA CHIMICA ACTA
Volume 499, Issue -, Pages 13-15Publisher
ELSEVIER
DOI: 10.1016/j.cca.2019.07.034
Keywords
TPK1; Basal Ganglia; Thiamine phosphokinase
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The product of thiamine phosphokinase is the cofactor for many enzymes, including the dehydrogenases of pyruvate, 2-ketoglutarate and branched chain ketoacids. Its deficiency has recently been described in a small number of patients, some of whom had a Leigh syndrome phenotype. The patient who also had a Leigh phenotype was initially found to have a low concentration of biotin in plasma and massive urinary excretion of biotin. Despite treatment with biotin and thiamine, her disease was progressive. Mutations c.311delG and c.426G > C were found in the TPK1 gene.
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