丙酮酸脱氢酶复合物缺乏症的研究现状

摘要

Pyruvate dehydrogenase complex (PDHc)deficiency is a genetic disorder of mitochondrial energy metabolism.Most cases result from mutations in gene encoded PDHc.The clinical presentation of patients with PDHc deficiency is extremely variable.Diagnosis of PDHc deficiency remains challenging,which depends on definitive enzymatic assays and DNA analysis.We review the relevant literature of recent domestic and international research results,in order to enhance our awareness of this disease and reduce misdiagnosis and missed diagnosis.It is helpful to improve prognosis and quality of life of patients by earlier and essential treatment.%丙酮酸脱氢酶复合物缺乏症是线粒体能量代谢异常的遗传性疾病,是由基因突变引起丙酮酸脱氢酶活性降低的一组疾病.该病临床表现复杂多样,诊断困难,酶检测和基因突变分析可协助诊断.该文介绍了近年来丙酮酸脱氢酶复合体缺乏症的国内外研究,以期提高对本病的认识,减少漏诊、误诊,促进早期治疗,改善预后.