Zubarioglu Tanyel, Ahmadzada Saffa, Yalcinkaya Cengiz, Kiykim Ertugrul, Aktuglu-Zeybek Cigdem
Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Cerrahpasa Medical Faculty, Department of Neurology, Division of Pediatric Neurology, Istanbul University-Cerrahpasa, Istanbul, Turkey.
J Pediatr Endocrinol Metab. 2021 Sep 14;34(12):1611-1614. doi: 10.1515/jpem-2021-0474. Print 2021 Dec 20.
The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1).
A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease. She had lethargy, hypotonia, and choreoathetoid movements. In terms of COVID-19 encephalopathy, the reverse transcription-polymerase chain reaction assay test for COVID-19 was negative in cerebral spinal fluid. Brain imaging showed frontotemporal atrophy, bilateral subcortical and periventricular white matter, basal ganglia, and thalamic involvement. Elevated glutarylcarnitine in plasma and urinary excretion of glutaric and 3-OH-glutaric acids was noted. A homozygote mutation in the glutaryl-CoA dehydrogenase gene led to the diagnosis of GA-1.
With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature.
冠状病毒病19（COVID-19）对先天性代谢缺陷患者代谢结局的影响鲜有讨论。在此，我们报告1例在COVID-19病程中出现急性脑病危机作为戊二酸血症1型（GA-1）首发体征的病例。
1例9个月大的患者在COVID-19病程中因脑病和获得性运动技能急性丧失入院。她有嗜睡、肌张力减退和舞蹈手足徐动症。就COVID-19脑病而言，脑脊液中COVID-19的逆转录-聚合酶链反应检测呈阴性。脑部影像学显示额颞叶萎缩、双侧皮质下和脑室周围白质、基底神经节和丘脑受累。血浆中戊二酰肉碱升高，尿中戊二酸和3-羟基戊二酸排泄增加。戊二酰辅酶A脱氢酶基因的纯合突变导致GA-1的诊断。
通过本报告，文献中首次报道了GA-1患者中与COVID-19相关的神经损伤。
