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Diseases

Genetic and Rare Diseases Information Center (GARD)

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HMG CoA lyase deficiency


Other Names for this Disease

  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • Defect in leucine metabolism
  • HL deficiency
  • HMG-CoA lyase deficiency
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Your Questions Answered


2 question(s) from the public on this disease have been answered. Submit a new question.
  • My daughter has been diagnosed with this condition. I have low platelet and white blood cell counts and have been told my marrow does not properly store iron. Is it possible that I have the condition also, and may not be just a carrier? Click here for answer

  • Are there any active protocols researching this disorder? We would like to make a donation for research. Click here for answer

Other Names for this Disease
  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • Defect in leucine metabolism
  • HL deficiency
  • HMG-CoA lyase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.