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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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leucine or make ketones. Ketones are used for energy during periods of fasting. This condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During an episode, 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, coma, and death. Episodes are often triggered by an infection, fasting, strenuous exercise, or other types of stress. Mutations in the HMGCL gene cause HMG-CoA lyase deficiency, and this condition is inherited in an autosomal recessive pattern.HMG CoA lyase deficiency is an inherited disorder in which the body cannot process
Last updated: 11/24/2009
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Genetics Home Reference. October 2008; http://ghr.nlm.nih.gov/condition=3hydroxy3methylglutarylcoenzymealyasedeficiency. Accessed 11/24/2009.
- Genetics Home Reference (GHR) contains information on HMG CoA lyase deficiency. This website is maintained by the National Library of Medicine.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss HMG CoA lyase deficiency. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss HMG CoA lyase deficiency. Click on the link to view a sample search on this topic.