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3-Hydroxy-3-methylglutaric aciduria.

C L Greene·H M Cann·B H Robinson·K M Gibson·L Sweetman·J Holm·W L Nyhan
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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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Cells, CulturedFemaleFibroblastsFollow-Up StudiesGlutaratesHumansInfant, NewbornLeucineMeglutolOxo-Acid-LyasesSkinValeratesCase ReportsJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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C L Greene, H M Cann, B H Robinson, K M Gibson, L Sweetman, J Holm, W L Nyhan. 1984. 3-Hydroxy-3-methylglutaric aciduria.. https://doi.org/10.3109/01677068409107082

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