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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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Inheritance

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How is HMG CoA lyase deficiency inherited?

HMG CoA lyase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene (and are referred to as carriers), but they typically do not show signs and symptoms of the condition. When parents who are both carriers of an autosomal recessive condition have a child, there is a 1 in 4 (25%) chance for each child to have the condition, a 1 in 2 (50%) chance for each child to be a carrier like each of the parents, and a 1 in 4 (25%) chance for the child not to have the condition and not be a carrier.

It is possible for an individual with an autosomal recessive condition to have a child with the same condition; if an individual has the condition and the other parent is a carrier for the same condition, there would be a 1 in 2 (50% chance) for each child to have the condition and a 1 in 2 (50%) chance for the child to be a carrier (but not have the condition). However, in the case of HMG CoA lyase deficiency, it would be highly unlikely for an adult to unknowingly have it and not experience the very severe, specific signs and symptoms that typically first occur in infancy.
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.