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Case Reports
. 1984 Apr;1(2):165-73.
doi: 10.3109/01677068409107082.

3-Hydroxy-3-methylglutaric aciduria

C L Greene, H M Cann, B H Robinson, K M Gibson, L Sweetman, J Holm, W L Nyhan
Case Reports

3-Hydroxy-3-methylglutaric aciduria

C L Greene et al. J Neurogenet. 1984 Apr.

Abstract

3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglycemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

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