Glucose tolerance and erythrocyte insulin receptors in Friedreich's ataxia.
Detailed in vivo and in vitro studies of glucose and insulin metabolism in Friedreich's ataxia patients and unaffected family members have further defined the extent of the abnormalities in carbohydrate metabolism. The high incidence of glucose intolerance and a hyperinsulinemic response to a glucose challenge in a high percentage of Friedreich's ataxia patients has been confirmed. An increased incidence of glucose intolerance among heterozygotes is suggested, while the siblings show a more normal distribution of diabetes and a nearly normal insulin response to the glucose tolerance test. Human growth hormone patterns are normal for all groups. Preliminary studies of insulin binding to erythrocytes suggest a difference in the binding characteristics among diabetic Friedreich's ataxia patients, while the binding in the non-diabetic Friedreich's ataxia group is similar to that of non-diabetic controls. Results from a small group of non-diabetic siblings suggest a normal insulin binding, while a tendency toward increased binding at low insulin concentrations among diabetic family members is noted.
D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000097:blood; D004912:Erythrocytes / Q000378:metabolism*; D005190:Family; D005621:Friedreich Ataxia / Q000097:blood* / Q000150:complications / Q000235:genetics; D005951:Glucose Tolerance Test; D013006:Growth Hormone / Q000097:blood; D006579:Heterozygote; D006801:Humans; D007328:Insulin / Q000097:blood; D011972:Receptor, Insulin / Q000378:metabolism*
D007328:Insulin; D013006:Growth Hormone; D011972:Receptor, Insulin