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Studies on a child suspected of having a deficiency in 3-hydroxy-3-methylglutaryl-CoA lyase

Authors
Journal
Clinica Chimica Acta
0009-8981
Publisher
Elsevier
Publication Date
Volume
95
Issue
1
Identifiers
DOI: 10.1016/0009-8981(79)90330-9

Abstract

Abstract The urine of a child who presented with hyperammonemia was found to contain elevated levels of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid and 3-methylglutaric acid. An increased excretion of these organic acids has been reported previously in a child with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Enzyme studies using cultured fibroblasts from this patient, however, indicated that the 3-hydroxy-3-methylglutaryl-CoA lyase activity was not markedly reduced.

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