间歇性高血氨症可能是 α-甲基酰基辅酶 A 消旋酶缺乏症的特征之一。
Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency.
机构信息
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
出版信息
Eur J Neurol. 2021 Feb;28(2):729-731. doi: 10.1111/ene.14588.
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.
α-甲基酰基辅酶 A 消旋酶（AMACR）缺乏症是一种罕见的疾病，影响植烷酸的过氧化物酶体代谢，已有十例成人病例报道。我们描述了一例 AMACR 缺乏症病例，其临床表现主要为间歇性高肌酸激酶血症，提示应考虑 AMACR 的肌病特征。
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