Endocrine Abstracts

Introduction: Autosomal recessively inherited disorders in the metabolism of mitochondrial fatty acid β-oxidation (FAO) constitute a group of rare diseases with different clinical manifestations and prognosis depending on the type of enzyme deficiency. Hypoketotic hypoglycemia is common to all these types of disorders and is associated with increased consumption of glucose and impaired synthesis of ketone bodies from fatty acids during the fasting periods, infection, or prolonged physical exertion. The analysis of acylcarnitines using tandem mass spectrometry is the gold standard diagnosis of FAO disorders; however, it can be supplemented by the determination of acylglycines, organic acids and other metabolites to clarify the type of enzyme deficiency. The study aims to discuss a clinical case of genetic FAO disorder, first diagnosed after coronavirus disease (COVID-19) as a trigger for the development of clinical signs of the disease.

Case report: A previously healthy 18-year-old male patient was admitted to the intensive care unit in a hypoglycemic coma with a blood glucose level of 1.8 mmol/l. Upon examination, COVID-19 with moderate bilateral pneumonia was diagnosed. Biochemical investigations showed the significantly elevated levels of creatine phosphokinase, liver enzymes, creatinine and urea. After clinical stabilization and resolution of SARS-CoV-2 infection the renal biomarkers, liver enzymes and creatine phosphokinase were normalized, and the patient was transferred to the endocrinology department for further examination. After exclusion of insulin-producing tumors, adrenal insufficiency and other common causes of hypoglycemia, a fasting test was performed. Decreasing the glucose level to 3.4 mmol/l, insulin to 5.5 IU/l and C-peptide to 0.7 ng/ml, accompanied by severe headache, nausea and recurrent vomiting in the patient, led to the decision to stop fasting after 28 hours. In cases of suspected congenital metabolic disorders, the profiles of acylcarnitine in plasma and organic acid in urine during a period of fasting were measured. Elevated levels of plasma acylcarnitines and increased excretion of ethylmalonic, glutaric and isovaleric acids indicated multiple deficiency of acylcoenzyme A dehydrogenase.

Conclusions: Along with the risk of a severe course of COVID-19 in individuals with metabolic dysfunction, COVID-19 can be a trigger for the initial detection of rare inherited metabolic disorders. This study describes for the first time a clinical case of a newly diagnosed multiple deficiency of acylcoenzyme A dehydrogenase in an adult during the development of SARS-CoV-2 infection.