Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.

Autor: Nyhan WL; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA. Electronic address: wnyhan@ucsd.edu., McGowan K; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA., Barshop BA; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
Jazyk: angličtina
Zdroj: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2019 Dec; Vol. 499, pp. 13-15. Date of Electronic Publication: 2019 Aug 09.
DOI: 10.1016/j.cca.2019.07.034
Abstrakt: 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.
(Copyright © 2019 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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