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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hmg-coa-lyase-deficiency-109950/overview/67702 • DATE UPDATED: 2019-01-08

References

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

"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

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