3-Hydroxy-3-Methylglutaric Aciduria

Carol L. Greene Department of Pediatrics, Stanford University Medical Center, Stanford, CA, 94305, USA

Howard M. Cann Department of Pediatrics, Stanford University Medical Center, Stanford, CA, 94305, USA

Brian H. Robinson Department of Biochemistry and Pediatrics, University of Toronto and Research Institute The Hospital for Sick Children, Toronto, (Canada)

Kenneth M. Gibson Department of Biochemistry and Pediatrics, University of Toronto and Research Institute The Hospital for Sick Children, Toronto, (Canada)

Lawrence Sweetman Department of Pediatrics and Chemistry, University of California, San Diego, La Jolla, CA, 92093, USA

Jan Holm Department of Pediatrics and Chemistry, University of California, San Diego, La Jolla, CA, 92093, USA

William L. Nyhan Department of Pediatrics and Chemistry, University of California, San Diego, La Jolla, CA, 92093, USA

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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, hypoglecemia, 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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3-Hydroxy-3-Methylglutaric Aciduria

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3-Hydroxy-3-Methylglutaric Aciduria

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