3-hydroxy-3-methylglutaric aciduria

Carol L. Greene, Howard M. Cann, Brian H. Robinson, Kenneth M. Gibson, Lawrence Sweetman, Jan Holm, William L. Nyhan

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)165-173
Number of pages9
JournalJournal of Neurogenetics
Volume1
Issue number2
DOIs
StatePublished - 1984
Externally publishedYes

Keywords

  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaryl-CoA lyase
  • Hyperammonemia
  • Hypoglycemia -metabolic acidosis without ketonuria

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience

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