dc.contributor.author | AHMADZADA, SAFFA | |
dc.contributor.author | Aktuglu-Zeybek, Cigdem | |
dc.contributor.author | YALÇINKAYA, CENGİZ | |
dc.contributor.author | KIYKIM, ERTUĞRUL | |
dc.contributor.author | ZÜBARİOĞLU, Tanyel | |
dc.date.accessioned | 2022-02-18T09:21:28Z | |
dc.date.available | 2022-02-18T09:21:28Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | ZÜBARİOĞLU T., AHMADZADA S., YALÇINKAYA C., KIYKIM E., Aktuglu-Zeybek C., "COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1", JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.12, ss.1611-1614, 2021 | |
dc.identifier.issn | 0334-018X | |
dc.identifier.other | av_33add6c7-dd6b-4d06-9d85-6da7a500a2c4 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/177061 | |
dc.identifier.uri | https://doi.org/10.1515/jpem-2021-0474 | |
dc.description.abstract | Objectives: 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). Case presentation: 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 transcriptionpolymerase 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. Conclusions: With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature. | |
dc.language.iso | eng | |
dc.subject | İç Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Endocrinology | |
dc.subject | Endocrine and Autonomic Systems | |
dc.subject | Pediatrics | |
dc.subject | Pediatrics, Perinatology and Child Health | |
dc.subject | Endocrinology, Diabetes and Metabolism | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | PEDİATRİ | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.title | COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1 | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | |
dc.contributor.department | İstanbul Üniversitesi-Cerrahpaşa , Cerrahpaşa Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü | |
dc.identifier.volume | 34 | |
dc.identifier.issue | 12 | |
dc.identifier.startpage | 1611 | |
dc.identifier.endpage | 1614 | |
dc.contributor.firstauthorID | 2772966 | |