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COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1

Tanyel Zubarioglu, Saffa Ahmadzada, Cengiz Yalcinkaya, Ertugrul Kiykim and Cigdem Aktuglu-Zeybek



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 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.

Corresponding author: Tanyel Zubarioglu,Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Kocamustafapasa Fatih, 34098, Istanbul, Turkey, Phone: +905363281439, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. TZ serves as the guarantor for the article. She accepts full responsibility for the work, had access to the data, and controlled the decision to publish. She has been involved in the conception, design, analysis, and interpretation of the data and also drafting the article. SA and CY have been involved in the conception, design, analysis, and interpretation of the data. EK has been involved in the analysis and interpretation of the data. CAZ has been involved in the conception, design, interpretation of the data, and revising the article critically for important intellectual content.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.


1. Hoffmann, GF, Kölker, S. Clinical approach to inborn errors of metabolism in pediatrics. In: Saudubray, JM, Baumgartner, MR, Walter, J, editors Inborn metabolic diseases diagnosis and treatment. Heidelberg: Springer; 2016:339–42 pp. Search in Google Scholar

2. Sauer, SW, Okun, JG, Schwab, MA, Crnic, LR, Hoffmann, GH, Goodman, SI, et al.. Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem 2005;280:21830–6. Search in Google Scholar

3. Larson, A, Goodman, S. Glutaric acidemia type 1. In: Adam, MP, Ardinger, HH, Pagon, RA, Wallace, SE, Bean, LJH, Mirzaa, G, et al.., editors GeneReviews. [Internet]. Seattle, WA: University of Washington; 1993–2021. Search in Google Scholar

4. Boy, N, Mühlhausen, C, Maier, EM, Heringer, J, Assmann, B, Burgard, P, et al.. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017;40:75–101. Search in Google Scholar

5. Kılavuz, S, Bulut, D, Kor, D, Şeker-Yılmaz, B, Özcan, N, Incecik, F, et al.. The outcome of 41 late-diagnosed Turkish GA-1 patients: a candidate for the Turkish NBS. Neuropediatrics 2021 Feb 12. [Epub ahead of print]. Search in Google Scholar

6. World Health Organization. Available from: [Accessed 21 Apr 2021]. Search in Google Scholar

7. Caciotti, A, Procopio, E, Pochiero, F, Falliano, S, Indolfi, G, Donati, MA, et al.. SARS-CoV-2 infection in a patient with propionic acidemia. Orphanet J Rare Dis 2020;15:306. Search in Google Scholar

8. Wongkittichote, P, Watson, JR, Leonard, JM, Toolan, ER, Dickson, PI, Grange, DK. Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case report. JIMD Rep 2020;56:40–5. Search in Google Scholar

9. Kaur, S, Campbell, SL, Stockton, DW. Management of COVID-19 infection in organic acidemias. Am J Med Genet 2021;185:1854–7. Search in Google Scholar

10. Dong, Y, Mo, X, Hu, Y, Qi, X, Jiang, F, Jianget, Z, et al.. Epidemiology of COVID-19 among children in China. Pediatrics 2020;145:e20200702. Search in Google Scholar

Received: 2021-07-13
Accepted: 2021-09-01
Published Online: 2021-09-13

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