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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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Symptoms

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What are the signs and symptoms of HMG CoA lyase deficiency?

The signs and symptoms of HMG CoA lyase deficiency usually appear within the first year of life. The condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During one of these episodes, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions (seizures), coma, and death. Episodes are often triggered by an infection, fasting (not eating enough), strenuous exercise, or other types of stress.[1]
Last updated: 12/21/2010

References
  1. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Genetics Home Reference. October, 2008; http://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency. Accessed 12/21/2010.


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.