Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult

Repeated episodes of hypoglycemia accompanied by elevated serum concentrations of free fatty acid without ketosis, fatty infiltration of the liver, hepatic dysfunction, and proximal myopathy in a 19-year-old woman, prompted us to analyze her urine for organic acids. Greatly increased quantities of glutaric acid, ethylmalonic acid, dicarboxylic acids with six to 10 carbons, and isovalerylglycine were consistently found in her urine. The ability of cultured skin fibroblasts from the patient to oxidize [1-14C]butyrate and [2-14C]lysine was reduced. These urinary and in vitro tive activity of several acyl coenzyme A dehydrogenases, including glutaryl, isovaleryl, and butyryl coenzyme A dehydrogenases — establishing a diagnosis of glutaric aciduria Type II. Carnitine concentrations in the skeletal muscle and liver were moderately reduced, but carnitine deficiency was considered a secondary biochemical abnormality. Although glutaric aciduria Type II has previously been described only in a neonate, the disease must be considered in the differential diagnosis of hypoglycemia in adults. (N Engl J Med 301:1405–1409, 1979) HYPOGLYCEMIA caused by inborn errors of metabolism, including disturbances of organicacid metabolism,1 usually appears during infancy or childhood. We have recently treated a 19-year-old woman who had episodic vomiting, severe hypoglycemia, and fatty infiltration of the liver. The similarity of her presentation to that of Jamaican vomiting sickness2,3 led us to measure organic acids in her urine, which led in turn to the diagnosis of glutaric aciduria Type II. We know of only one report of this organic aciduria, in a neonate who died after a short fulminant course.4 We wish to draw attention to the occurrence of a milder. © 1979, Massachusetts Medical Society. All rights reserved.