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3‐Hydroxy‐3‐methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction

1986; Springer Science+Business Media; Volume: 10; Issue: 2 Linguagem: Inglês

10.1007/bf01800039

1573-2665

Majed Dasouki, Daniel D. Buchanan, Nina H. Mercer, K. Michael Gibson, Jess G. Thoene,

Biochemical Acid Research Studies

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 on dl ‐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.