[Late manifestations of glycogenosis 1 in early adulthood].

Abstract

Mild forms of glucose-6-phosphatase deficiency (glycogenosis type I) may remain undetected till indirect consequences of the metabolic bloc clarify the diagnosis in early adulthood. Since humoral regulation could play a decisive role in the metabolic adaption to hypoglycemia, caused by the enzyme deficiency, we studied insulin-, glucocorticoid-, catecholamine-and somatotropin-secretion in a 27 year old man with a mild glycogenosis type I. Basal and stimulated insulin release was decreased, the glucocorticoid secretion lay in the lowest part of the normal range, whereas catecholamine and somatotropin secretion showed no significant change. Thus, the humoral adaption in glucose-6-phosphatase deficiency corresponds to the hormonal regulation in prolonged starvation.