HMG-CoA lyase deficiency

Overview

What is HMG-CoA lyase deficiency?

HMG-CoA lyase deficiency (also known as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency) is a rare genetic condition that prevents the body from breaking down the amino acid leucine, which makes up many proteins, and stops the body from making ketones, which are compounds that are used for energy during periods without food (fasting).

HMG-CoA lyase deficiency usually affect babies before one year of age and causes episodes of vomiting, diarrhea, dehydration, extreme tiredness, low muscle tone, low blood sugar levels, and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If not treated, additional symptoms include breathing problems, seizures, coma, and death.

References
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Are there other names for HMG-CoA lyase deficiency?

How common is HMG-CoA lyase deficiency?

Are there other names for HMG-CoA lyase deficiency?

HMG-CoA lyase deficiency is also known as:

  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMG-CoA Lyase Deficiency
  • HMGCL Deficiency
  • HL Deficiency
  • Hydroxymethylglutaric aciduria
  • Defect in leucine metabolism
  • 3-hydroxy-3-methylglutaric aciduria
  • HMG
References
How common is HMG-CoA lyase deficiency?

HMG-CoA lyase deficiency is a rare condition and its exact frequency is unknown. To date, it has been reported in fewer than 100 individuals worldwide. Most people diagnosed with this disorder have been from Spain, Portugal, or Saudi Arabia.

References
  • "HMG-CoA Lyase Deficiency - Genetics Home Reference - NIH." U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency.
  • Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY, MIM Number:246450: 07/17/2017 : https://www.omim.org/entry/246450 Accessed 02JAN19.

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