3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction |
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| Authors: | M Dasouki D Buchanan N Mercer K M Gibson J Thoene |
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| Institution: | (1) Department of Pediatrics and Communicable Diseases, Division of Biochemical Genetics and Metabolism, University of Michigan, Ann Arbor, Michigan, USA;(2) Department of Dietetics, Nutrition Services, University of Michigan, Ann Arbor, Michigan, USA;(3) Department of Pediatrics, Division of Biochemical Genetics, University of California, San Diego, La Jolla, California, USA |
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| Abstract: | A female infant, born to first cousin parents, lapsed into coma with severe metabolic acidosis on day three of life. The gas chromatographic/mass spectrometric urinary organic acid profile showed marked elevation of the leucine metabolites 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxy-isovaleric acids. Less than 5% of the normal activity of the enzyme 3-hydroxy-3-methylglutaryl CoA lyase was detected in cultured skin fibroblasts. The patient's total and free carnitine was initially low but rose to normal levels after placing her ondl-carnitine (100 mg kg–1 d–1). On a diet providing 87 mg kg–1 d–1 of leucine and only 25% of total calories as fat and 2 g kg–1 d–1 protein, the concentration of the urinary organic acids fell markedly. She is now 15 months old with normal growth and development. This regimen appears effective in the early treatment of 3-hydroxy-3-methylglutaric aciduria. |
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