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I am the mother of a seven-year-old boy who was diagnosed with hyperinsulinism shortly after birth. He is being treated with diazoxide to control insulin release and he has remained euglycemic on this medication. However, recent blood tests have revealed that my son is also hyperammonemic and possibly has been since birth. In addition, alpha-keto-glutarate has been found in his urine.

My son's doctors have been unable to discover the cause of his condition (a urea cycle defect has been ruled out) so I am asking other specialists for advice. Specifically, I am asking if you are aware of other cases where hyperinsulinism is combined with hyperammonemia and/or the release of alpha-keto-glutarate. If you are, or if you have a possible explanation for his condition, I would very much like to hear from you. Thank you for your time and consideration.


The finding of alpha-keto-glutaric acid in the urine together with hyperammonemia suggests that your son's problem may be "Pyruvate carboxylase deficiency." This would also cause hypoglycemia. To accept such a diagnosis would involve questioning whether the low blood sugars at birth were indeed due to hyperinsulinism. Seven years ago insulin measurements were not as generally reliable as they are today; but the association of nesidioblastosis (hyperinsulinism) with the other findings seems like an extreme rarity.

You should ask your son's doctor about whether it might be appropriate to consider further investigations in a recognised center for inherited metabolic disease.


Original posting 26 Apr 97


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Last Updated: Tuesday April 06, 2010 15:08:54
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