Pyruvate Carboxylase Deficiency (PC DEFICIENCY)

丙酮酸羧化酶缺乏症(来自ICD-11)

别称:

Pyruvate Carboxylase Deficiency Disease

Leigh Necrotizing Encephalopathy Due to Pyruvate Carboxylase Deficiency

Leigh Syndrome Due to Pyruvate Carboxylase Deficiency

Ataxia with Lactic Acidosis Type Ii

Pc Deficiency

Leigh Syndrome Due to Pc Deficiency

Ataxia with Lactic Acidosis Type 2

Pyruvate Carboxylase Deficiency, Severe Neonatal Type

Pyruvate Carboxylase Deficiency, Infantile Type

Pyruvate Carboxylase Deficiency, Benign Type

Pyruvate Carboxylase Deficiency Type C

Pyruvate Carboxylase Deficiency Type a

Pyruvate Carboxylase Deficiency Type B

Ataxia with Lactic Acidosis, Type Ii

Type Ii Ataxia with Lactic Acidosis

Deficiency of Pyruvic Carboxylase

Ataxia with Lactic Acidosis Ii

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

丙酮酸羧化酶缺乏症，也被称为丙酮酸羧化酶缺乏引起的莱利坏死性脑病，与丙酮酸脱氢酶e1-α缺乏症和丙酸血症有关，症状包括周期性乳酸升高、抽搐和癫痫发作。与丙酮酸羧化酶缺乏症相关的重要基因是PC（丙酮酸羧化酶）。在该疾病的背景下提到了药物丙酮酸。相关组织包括肝脏和大脑，相关表型是血清乳酸增加和乳酸酸中毒。

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