Low Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

• Published in: Metabolites Vol. 13; no. 7; p. 780
• Main Authors: Stenlid, Rasmus, Manell, Hannes, Seth, Rikard, Cerenius, Sara Y., Chowdhury, Azazul, Roa Cortés, Camilla, Nyqvist, Isabelle, Lundqvist, Thomas, Halldin, Maria, Bergsten, Peter
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 22.06.2023; MDPI
• Subjects: Acyl-CoA dehydrogenase; Amino acids; Analysis; Biological oxidation (Metabolism); Carnitine; carnitine uptake deficiency; Dehydrogenases; Evaluation; Fasting; Fatty acids; Glucagon; glucagon like peptide-1; Glucose; Hypoglycemia; Inborn errors of metabolism; Insulin; medium-chain acyl-CoA dehydrogenase deficiency; Metabolism; Normal distribution; Oxidation; Oxidoreductases; Patients; pediatrics; Peptides; Plasma; very long-chain acyl-CoA dehydrogenase deficiency; Sweden; United Kingdom > UK; United States > US; carnitine uptake deficiency; inborn errors of metabolism; insulin; glucagon like peptide-1; pediatrics; glucagon; very long-chain acyl-CoA dehydrogenase deficiency; medium-chain acyl-CoA dehydrogenase deficiency
• ISSN: 2218-1989; 2218-1989
• DOI: 10.3390/metabo13070780

(1) Background: Deficiencies of mitochondrial fatty acid oxidation (FAO) define a subgroup of inborn errors of metabolism, with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) being two of the most common. Hypoketotic hypoglycemia is a feared clinical complication and the treatment focuses on avoiding hypoglycemia. In contrast, carnitine uptake deficiency (CUD) is treated as a mild disease without significant effects on FAO. Impaired FAO has experimentally been shown to impair glucagon secretion. Glucagon is an important glucose-mobilizing hormone. If and how glucagon is affected in patients with VLCAD or MCAD remains unknown. (2) Methods: A cross-sectional study was performed with plasma hormone concentrations quantified after four hours of fasting. Patients with VLCAD (n = 10), MCAD (n = 7) and CUD (n = 6) were included. (3) Results: The groups were similar in age, sex, weight, and height. The glucagon and insulin levels were significantly lower in the VLCAD group compared to the CUD group (p < 0.05, respectively). The patients with CUD had glucagon concentrations similar to the normative data. No significant differences were seen in GLP-1, glicentin, glucose, amino acids, or NEFAs. (4) Conclusions: Low fasting concentrations of glucagon are present in patients with VLCAD and cannot be explained by altered stimuli in plasma.