HMG-CoA lyase deficiency
What are the signs and symptoms of HMG-CoA lyase deficiency?
Signs of HMG-CoA lyase deficiency usually become apparent in the first year of life. Symptoms include periods or episodes of vomiting, diarrhea, dehydration, extreme tiredness, and low muscle tone. During these episodes, blood sugar levels can drop very low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If this condition is not treated, it can lead to breathing problems, seizures, coma, enlargement of the liver (hepatomegaly), and death. Episodes are often triggered by an infection, going too long without food, strenuous exercise, or other types of stress.
- 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.
- "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 Accessed 02JAN2019
- Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html#4. Accessed 02JAN2019