July 27, 2000
Diagnosis and Symptoms, Hypoglycemia
Question from Springfield, Pennsylvania, USA:
My four boys, ages one-and-one-half to eleven years, all have ketotic hypoglycemia. The first one to be diagnosed was my second son, at the age of two. Every four weeks, he would go into a coma. When they finally drew blood, his level was 26 mg/dl (1.4 mmol/dl). I was told he would outgrow this by the age of five or six. My oldest son wasn't diagnosed until he began fainting when he was nine years old. I make sure I feed them protein and carbs before bed. We also make sure they eat three really good meals during the day. We don't have the problem like we once did, but they definitely haven't outgrown this. Sometimes my second son, who is now eight, will have the high ketones, but his blood sugars are fine. This causes him to vomit most of the day. Then, suddenly, he's fine and can eat anything he wants. Is it common for this to continue past five or six? I read your one article that says it is not related to diabetes. I've been told they all have a chance of developing diabetes because of this. My doctors have also told me that stomach pain is a precursor to diabetes. My eeight year old was just in the hospital for unexplained severe stomach pain. Can you suggest any books?
The term ‘ketotic hypoglycemia’ was first introduced about forty years ago by a pediatrician in Minneapolis. In the very great majority of cases, this was due to carbohydrate deprivation and the ketosis was the product of using fat instead of carbohydrate as an energy source. It was fairly common and became better as children got older, was simple to treat, and probably because of this, no real effort was made to pinpoint a specific metabolic cause or to find out why some children were more vulnerable to this problem than others.
Later however, it came to be recognised that ketotic hypoglycemia could very rarely be caused by a number of genetically determined ‘inborn errors of metabolism’ of carbohydrate, fatty acids and amino acids. Furthermore, as sophistication in genetics has increased, it became clear that, while most of these conditions presented acutely in early life, there were many much less serious variants of the same disorder. In view of the very strong family history, I think that you should discuss this small possibility with the children’s pediatrician and consider referral or perhaps just the dispatch of a urine and blood sample from one child to a center that can provide the rather special technology that may be needed for diagnosis.
A lot of information about these rare conditions can be reviewed at the Society for inherited metabolic disorders website, and a partial list of available centers is at their websites.
The above problems are not related to diabetes, although, it is true that, very uncommonly in children, in the prediabetic phase, the injured insulin producing cells may show an inappropriate delay in secreting insulin in response to a glucose load and thus cause hypoglycemia. I am sure that all four children have already had several simple tests for diabetes. It is also true that abdominal pain may be associated with diabetes, but this could be due to the presence of another autoimmune condition such as the celiac syndrome. The normal glucose with high ketones in your second son is compatible with one of the above conditions because the basic problem does not directly involve glucose metabolism. I cannot explain the abdominal pain, but vomiting episodes and sometimes special food aversions are common.
I hope this rather complicated introduction to some alternative rare possibilities may help and not confuse.