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Clinica Chimica Acta：硫胺磷酸激酶缺乏和TPK1突变表现为生物素应答的基底神经节病

2019-12-21 MedSci MedSci原创

基底神经节病
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硫胺磷酸激酶的产物是许多酶的辅因子，包括丙酮酸脱氢酶、<span lang="EN-US" style="font-size:12.0pt;mso-bidi-font-size:14.0pt;font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;; mso-fareast-font-family:宋体;mso-bidi-font-family

硫胺磷酸激酶的产物是许多酶的辅因子，包括丙酮酸脱氢酶、2-酮戊二酸和支链酮酸。最近已在少数患者中发现了它的缺陷，其中一些人患有李氏综合征表型。

研究发现有Leigh表型的患者最初血浆中的生物素浓度低，并且大量的生物素尿排泄。 尽管用生物素和硫胺素治疗，她的疾病仍在恶化。 且在TPK1基因中发现了突变c.311delG和c.426G→> C。

原始出处：

William L. Nyhan，Karen McGowan，Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

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    2019-12-26 guojianrong

    #基底神经节#

    0

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    2020-11-15 windight

    #CTA#

    0

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    2019-12-23 redcrab

    #激酶#

    0

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    2019-12-23 lilili1107

    #生物素#

    0

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