glutarylcarnitine and Brain-Diseases

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.

Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Brain Diseases, Metabolic; Carnitine; COVID-19; COVID-19 Testing; Female; Genetic Testing; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Magnetic Resonance Imaging; Motor Skills; Movement Disorders; Muscle Hypotonia