Takahashi Y, Miyajima H, Kaneko E
First Department of Medicine, Hamamatsu University School of Medicine, Shizuoka.
Intern Med. 1995 May;34(5):326-9. doi: 10.2169/internalmedicine.34.326.
Lactate dehydrogenase A subunit (LDH-A) deficiency is an inherited metabolic myopathy of glycolysis. The severity of this disease varies from case to case. We reported non-consanguineous male sibling cases who had severe muscle pain and rhabdomyolysis during anaerobic exercise. Genetic analysis revealed 20 base pair deletion of the sixth exon of the LDH-A gene. There was no difference in the gene abnormality between our patients and previously reported female cases who had history of consanguinity and lower degree of symptoms. The differences in disease severity were not due to genomic abnormality in our two families.
乳酸脱氢酶A亚基（LDH-A）缺乏症是一种遗传性糖酵解代谢性肌病。这种疾病的严重程度因病例而异。我们报告了非近亲男性同胞病例，他们在无氧运动期间出现严重的肌肉疼痛和横纹肌溶解。基因分析显示LDH-A基因第六外显子有20个碱基对缺失。我们的患者与先前报道的有血缘关系且症状较轻的女性病例之间在基因异常方面没有差异。我们两个家族中疾病严重程度的差异并非由于基因组异常。
