Abstract
Leprechaunism is a rare congenital disorder characterized by unique clinical features and profound derangements of carbohydrate metabolism. Extensive studies in 3 patients, ages 3 months to 3 years, revealed the following biochemical abnormalities: fasting hypoglycemia < 20 mg/dl and hyperinsulinemia > 50μU/ml; post-prandial hyperglycemia and hypersecretion of insulin (IN) >500 μU/ml in response to all known IN secretagogues including glucose, arginine, glucagon, and tolbutamide; marked resistance to exogenous IN and absence of ketosis were consistent findings. Circadian IN secretion assessed by continuous venous blood withdrawal suggests that the pancreatic B-cell remains responsive in some degree to feeding and fasting albeit at hyperinsulinemic baseline levels. IN was normal as to biological, immunological and chromatographic properties. Glucose turnover studies by stable isotope techniques after a 3-hour fast showed 2H-glucose disappearance to be comparable to normal children with a normal response to glucagon. After prolonged fasting (8-12 hrs.), patients were hypoglycemic and unresponsive to glucagon or epinephrine. IN binding to lymphocyte and RBC receptors were at the lower limits of normal. These derangements of carbohydrate metabolism and IN secretion are consistent with the post-receptor defect hypothesis as a plausible explanation for the disturbance in carbohydrate metabolism seen in leprechaunism.
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Schedewie, H., Elders, J., Herzberg, V. et al. Carbohydrate Homeostasis in Children With Leprechaunism.. Pediatr Res 13, 1190 (1979). https://doi.org/10.1203/00006450-197910000-00061
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DOI: https://doi.org/10.1203/00006450-197910000-00061