3-hydroxy-3-methylglutaric aciduria (HMG)


3-hydroxy-3-methylglutaric aciduria (HMG) is a condition in which the body is unable to break down certain proteins. People with HMG are also unable to produce ketone bodies, substances that help the body store energy. HMG is an organic acid condition because it can lead to a harmful amount of organic acids and toxins in the body. Each child with HMG has a slightly different experience. Most children with this condition start to show signs of HMG between 3 months and 2 years of age. A few babies start to show signs of the condition a few days after birth. Some signs of HMG include poor appetite, weak muscle tone, irritability, vomiting, and diarrhea. Early detection and treatment can often prevent the serious outcomes of this condition. Babies with HMG need to be on a strict diet to avoid certain proteins and fats.

This condition is also known as: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, HMG-CoA lyase deficiency, deficiency of hydroxymethylglutaryl-CoA lyase, 3HMG, 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency, hydroxymethylglutaric aciduria, 3-OH 3-CH3 glutaric aciduria.

To learn more about 3-hydroxy-3-methylglutaric aciduria, visit Screening, Technology, and Research in Genetics (STAR-G): 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Board Certified Metabolic Providers (PDF: 2 pages/204KB) for a listing of medical specialists and clinic contact information.