Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
复制标题
生物素酶缺乏症的可逆性代谢性肌病：其在引起肌张力低下的可能作用。
DOI：
10.1007/bf02436759
复制
发表时间：
1995
影响因子：
4.2
通讯作者：
Kaplan,P
中科院分区：
文献类型：
--
作者：
Bay,CA;Berry,GT;Glauser,TA;Hayward,JC;Wolf,B;Sladky,JT;Kaplan,P
一名5岁女孩在9个月大时被诊断为生物素酶缺乏症，表现为肢体和轴向张力低下，生物素治疗后改善。在该患者中，治疗前的肌电图（EMG）研究与轻度肌病过程相符。生物素治疗的连续肌电图显示肌病逐渐消退。这是第一例可逆性肌病患者生物素酶缺乏，这可能有助于临床发现张力不足。
A 5-year-old girl diagnosed with biotinidase deficiency at 9 months of age demonstrated limb and axial hypotonia which improved on biotin therapy. In this patient, electromyographic (EMG) studies prior to treatment were compatible with a mild myopathic process. Serial EMGs performed on biotin therapy demonstrated a gradual resolution of the myopathy. This is the first documented case of a reversible myopathy in a patient with biotinidase deficiency, which may contribute to the clinical finding of hypotonia.