3-HYDROXY-3-METHYLGLUTARYL COENZYME A LYASE DEFICIENCY.
- 1 March 1981
- journal article
- research article
- Published by Wiley in Acta Paediatrica
- Vol. 70 (2) , 265-268
- https://doi.org/10.1111/j.1651-2227.1981.tb05555.x
Abstract
The progress of a child with a defect in leucine metabolism due to a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase activity is reported. This child was reported briefly in 1976 when the abnormality was first suspected, at which time he was 7 mo. old. He is now aged 4 yr 7 mo. and appears to be well and developing satisfactorily. His diet has been difficult to control and the biochemical defect is extremely sensitive to small amounts of leucine in the diet.Keywords
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