Hyperinsulinism.
A 2-year-old boy had had severe intractable hypoglycaemia since birth. Transient success with diazoxide treatment delayed diagnosis until the age of 1 1/2 years. It was based on measurements of plasma insulin, blood glucose and urinary ketones at the end of a controlled fast, a normal glycaemic response to glucagon and an unusually high rate of glucose infusion necessary to maintain the blood sugar at a normal level. Subtotal pancreatectomy restored the blood sugar to normal without any impairment of exocrine pancreatic function.
D000597:Amino Acids, Branched-Chain / Q000172:deficiency; D001402:B-Lymphocytes / Q000473:pathology; D001786:Blood Glucose / Q000032:analysis; D002675:Child, Preschool; D003981:Diazoxide / Q000627:therapeutic use; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D007003:Hypoglycemia / Q000209:etiology; D007328:Insulin / Q000097:blood; D008297:Male; D010180:Pancreatectomy
D000597:Amino Acids, Branched-Chain; D001786:Blood Glucose; D007328:Insulin; D003981:Diazoxide