From Rhode Island, USA:
My 6 year old daughter almost died at age 11 months from hypoglycemia after catching the stomach flu. All of the blood work indicated a metabolic disorder. Now she is 5 years older and her symptoms include hypoglycemia when fasting, enlarged liver, slightly elevated lactate and very low pyruvate. Also her blood work indicated decreased fatty acid oxidation. Her doctor said she might have a mitochondrial disorder. We will be doing a skin biopsy soon. Her doctor wanted to know if there was a history of diabetes mellitus and/or hearing loss. In my research I have discovered my maternal great grandmother had diabetes mellitus and died from a cerebrovascular thrombosis at age 77 and my maternal grandmother died from a cerebrovascular accident (stroke) at age 29. What does the diabetes mellitus, hearing loss and mitochondrial disorders have to do with each other? Should I be concerned about my daughter ending up with diabetes mellitus in the future?
It seems as though your daughter might have a very rare metabolic disorder called "carnitine acyl transferase deficiency." This would account for the large liver, the hypoglycemia and evidence of incomplete fatty acid metabolism. It is not strictly speaking a mitochondrial disorder, only in the sense that the enzyme is needed to transport fatty acids into the mitochondrion for further metabolism.
It is not linked to those rare forms of diabetes that are associated with deafness, inheritance mostly along the maternal line and other neurological features which reflect mutations in the mitochondrial DNA. These include MIDD (Maternally Inherited Diabetes and Deafness), MELAS (Mitochondrial encephalopathy, Lactic acidosis Syndrome) and DIDMOAD (Diabetes insipidus, Diabetes mellitus, Optic Atrophy and deafness). So I don't think that you need worry about these possibilities in the future.
Original posting 26 Apr 97
Last Updated: Tuesday April 06, 2010 15:08:52
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