硫胺素磷酸激酶缺乏和 TPK1 突变表现为生物素反应性基底节疾病。
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
机构信息
Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
出版信息
Clin Chim Acta. 2019 Dec;499:13-15. doi: 10.1016/j.cca.2019.07.034. Epub 2019 Aug 9.
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.
硫胺素激酶的产物是许多酶的辅助因子，包括丙酮酸、2-酮戊二酸和支链酮酸的脱氢酶。最近在少数患者中描述了其缺乏症，其中一些患者具有 Leigh 综合征表型。该患者也具有 Leigh 表型，最初发现其血浆中生物素浓度低，且大量生物素从尿液中排泄。尽管用生物素和硫胺素进行了治疗，但她的病情仍在进展。在 TPK1 基因中发现了 c.311delG 和 c.426G > C 突变。
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