Bilgin Huseyin, Bozaci Ayse Ergul
Department of Pediatric Nutrition and Metabolism, Diyarbakir Children's Hospital, Diyarbakır, Turkey.
Department of Pediatric Nutrition and Metabolism, Manisa City Hospital, Manisa, Turkey.
Mol Genet Metab Rep. 2024 Mar 15;39:101070. doi: 10.1016/j.ymgmr.2024.101070. eCollection 2024 Jun.
It was aimed to identify markers that would indicate which cases presenting with rhabdomyolysis are more likely to be associated with inherited metabolic diseases.
We analyzed 327 children who applied to our Hospital Pediatric Nutrition and Metabolic Diseases Clinic with rhabdomyolysis. The diagnosis of rhabdomyolysis was made by measuring the serum creatinine kinase level in cases presenting with muscle pain, weakness and dark urine.
Metabolic disease was detected in 29 (16/13, M/F) patients from 26 different families. 298 patients (165/133, M/F) had normal metabolic work-up. We detected glutaric aciduria type 2 in 13 patients (44,6%), glycogen storage disease type 5 in three patients (10,3%), MCAD deficiency in three patients(10,3%), mitochondrial disease in three patients (10,3%), glycogen storage disease type 9 in one patient (3,5%), VLCAD deficiency in one patient (3,5%), LCHAD deficiency in one patient (3,5%), CPT2 deficiency in one patient(3,5%), Tango2 deficiency in one patient (3,5%), lipin-1 deficiency in one patient (3,5%) and primary carnitine deficiency in one patient (3,5%).
In our study, consanguineous marriage, developmental delay, and intellectual disability were found more frequently in patients with metabolic disease. In addition, CK levels above 2610 U/L was found to be significantly correlated with metabolic disease.
旨在确定可表明哪些横纹肌溶解症病例更有可能与遗传性代谢疾病相关的标志物。
我们分析了327名因横纹肌溶解症前来我院儿科营养与代谢疾病门诊就诊的儿童。对于出现肌肉疼痛、无力和深色尿液的病例，通过测量血清肌酸激酶水平来诊断横纹肌溶解症。
在来自26个不同家庭的29名（16名男性/13名女性）患者中检测到代谢疾病。298名患者（165名男性/133名女性）的代谢检查结果正常。我们在13名患者（44.6%）中检测到2型戊二酸尿症，在3名患者（10.3%）中检测到5型糖原贮积病，在3名患者（10.3%）中检测到中链酰基辅酶A脱氢酶缺乏症，在3名患者（10.3%）中检测到线粒体疾病，在1名患者（3.5%）中检测到9型糖原贮积病，在1名患者（3.5%）中检测到极长链酰基辅酶A脱氢酶缺乏症，在1名患者（3.5%）中检测到长链3-羟酰基辅酶A脱氢酶缺乏症，在1名患者（3.5%）中检测到肉碱棕榈酰转移酶2缺乏症，在1名患者（3.5%）中检测到Tango2缺乏症，在1名患者（3.5%）中检测到脂联素-1缺乏症，在1名患者（3.5%）中检测到原发性肉碱缺乏症。
在我们的研究中，代谢疾病患者中近亲结婚、发育迟缓及智力残疾更为常见。此外，发现肌酸激酶水平高于2610 U/L与代谢疾病显著相关。
