低血糖的常见原因包括高胰岛素血症,荷尔蒙缺乏,脂肪酸氧化紊乱,和糖原贮积病;然而,罕见的原因也应考虑的条件。线粒体复合物III缺乏显示常染色体隐性遗传或线粒体遗传模式。迄今为止,线粒体复合物III缺乏,仅在2例儿科患者中发现了归因于UQCRB基因(MIM615158)的致病性变异的3型核;两者均表现为低血糖和乳酸性酸中毒。在本文中,我们介绍了一个线粒体复合物III缺乏的患者,核3型,UQCRB变异与急性低血糖和乳酸性酸中毒发作相关。该男性患者在生命的第一天因呼吸急促而入院,代谢性酸中毒,和低血糖。到10岁,他因腹痛入院7次,呕吐,和发烧。他的血液检查显示低血糖,代谢性酸中毒,和高乳酸血症。在10岁的时候,进行了全外显子组测序(WES)分析,鉴定了纯合c.309_313delAGAAA(p。Glu104ArgfsTer10)UQCRB基因的致病变体。一旦排除了低血糖的常见原因,对其他罕见原因进行WES分析是至关重要的。因此,可以诊断罕见的疾病,如线粒体复合物III缺乏症。
Common causes of hypoglycemia include hyperinsulinism, hormonal deficiencies, fatty acid oxidation disorders, and glycogen storage diseases; however, rare causes should also be considered for the condition. Mitochondrial complex III deficiency shows an autosomal recessive or a mitochondrial inheritance pattern. To date, mitochondrial complex III deficiency, nuclear type 3 attributable to a pathogenic variant of the UQCRB gene (MIM 615158) has been identified in only 2 pediatric patients; both presented with hypoglycemia and lactic acidosis. In this paper, we present a patient with mitochondrial complex III deficiency, nuclear type 3, UQCRB variant associated with acute hypoglycemia and lactic acidosis episodes. The male patient was admitted on the first day of life with tachypnea, metabolic acidosis, and hypoglycemia. Up to 10 years of age, he was admitted 7 times with abdominal pain, vomiting, and fever. His blood tests revealed hypoglycemia, metabolic acidosis, and hyperlactatemia. At 10 years of age, a whole-exome sequencing (WES) analysis was performed identifying a homozygous c.309_313delAGAAA (p.Glu104ArgfsTer10) pathogenic variant of the UQCRB gene. Once the common causes of hypoglycemia are excluded, it is essential to perform a WES analysis for other rare causes. Thus, rare disorders such as mitochondrial complex III deficiency can be diagnosed.