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

J Pediatr Endocrinol Metab. 2021 Sep 13. doi: 10.1515/jpem-2021-0474. Online ahead of print.


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 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.

Conclusions: With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature.

Keywords: COVID-19; glutaric aciduria type 1; metabolic decompensation.

Publication types

  • Case Reports