Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency,European Journal of Neurology

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Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency
European Journal of Neurology ( IF 4.5 ) Pub Date : 2020-10-12 , DOI: 10.1111/ene.14588
B Krett ₁ , V Straub ₂ , J Vissing ₁

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α‐methylacyl‐CoA racemase (AMACR) deficiency is a rare disorder, affecting peroxisomal metabolism of pristanic acid, with ten published adult cases. We describe an AMACR deficiency case with a clinical presentation dominated by episodic hyperCKaemia, suggesting that myopathic features of AMACR should be considered.

中文翻译：

发作性高CKaemia可能是α-甲基酰基辅酶A消旋酶缺乏症的一个特征

α-甲基酰基辅酶 A 消旋酶 (AMACR) 缺乏症是一种罕见的疾病，影响降薄荷酸的过氧化物酶体代谢，有 10 个已发表的成人病例。我们描述了一个 AMACR 缺乏症病例，其临床表现以发作性高钾血症为主，表明应考虑 AMACR 的肌病特征。

更新日期：2020-10-12

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