Kılavuz Sebile, Bulut Derya, Kor Deniz, Şeker-Yılmaz Berna, Özcan Neslihan, Incecik Faruk, Onan Bilen, Ceylaner Gülay, Önenli-Mungan Neslihan
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Mersin University Faculty of Medicine, Mersin, Turkey.
Neuropediatrics. 2021 Oct;52(5):358-369. doi: 10.1055/s-0040-1722691. Epub 2021 Feb 12.
Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed.
This study included 41 patients diagnosed with acylcarnitine profile, urinary organic acids, mutation analyses in the symptomatic period. We presented with clinical, neuroradiological, and molecular data of our 41 patients.
The mean age at diagnosis was 14.8 ± 13.9 (15 days to 72 months) and, high blood glutaconic acid, glutarylcarnitine and urinary glutaric acid (GA) levels in 41 patients were revealed. Seventeen different mutations in the glutaryl-CoA dehydrogenase gene were identified, five of which were novel. The patients, most of whom were late-diagnosed, had a poor neurological outcome. Treatment strategies made a little improvement in dystonia and the frequency of encephalopathic attacks.
All GA-1 patients in our study were severely affected since they were late-diagnosed, while others show that GA-1 is a treatable metabolic disorder if it is diagnosed with NBS. This study provides an essential perspective of the severe impact on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be included in the Turkish NBS.
1型戊二酸血症（GA - 1）是一种遗传性脑性有机酸尿症。未经治疗的GA - 1患者在生命的前6年有发生急性脑病危机的风险。由于土耳其新生儿筛查（NBS）项目中根本不存在GA - 1的检测，我们研究中的大多数患者都是晚期诊断。
本研究纳入了41例在症状期通过酰基肉碱谱、尿有机酸、突变分析确诊的患者。我们展示了这41例患者的临床、神经放射学和分子数据。
诊断时的平均年龄为14.8±13.9岁（15天至72个月），41例患者的血中戊烯二酸、戊二酰肉碱和尿中戊二酸（GA）水平升高。在戊二酰辅酶A脱氢酶基因中鉴定出17种不同的突变，其中5种是新发现的。这些患者大多是晚期诊断，神经学预后较差。治疗策略在肌张力障碍和脑病发作频率方面有一点改善。
我们研究中的所有GA - 1患者由于诊断较晚而受到严重影响，而其他研究表明，如果通过NBS进行诊断，GA - 1是一种可治疗的代谢紊乱疾病。本研究提供了一个重要的观点，即除非通过NBS进行诊断，GA - 1对患者会产生严重影响。我们立即主张将GA - 1纳入土耳其的NBS项目。
