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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
More Names
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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

  1. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Genetics Home Reference. October, 2008; Accessed 12/21/2010.