HMG

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
An Organic Acid Disorder

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) is also known as HMG Lyase Deficiency or 3-OH 3-CH3 Glutaric Aciduria.

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What is it?
HMG is a disorder in which the body cannot properly process a certain amino acid.

Inheritance and Frequency
The gene defect for HMG is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency is a very rare disorder, with fewer than 100 cases reported worldwide.

Signs & Symptoms
Symptoms may include metabolic acidosis, hypoglycemia, sensitivity to dietary leucine, carnitine deficiency, hepatomegaly, fever, somnolence, and coma.

Long Term Effects
If this disorder is untreated, it is likely to result in death during childhood.

Treatment
Treatment often involves restriction of leucine from the diet, supplementary glucose to prevent hypoglycemia, and carnitine supplementation.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter your state of residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

Organic Acidemia Association
13210 35th Avenue
Plymouth, MN 55441
Contact Person: Kathy Stagni
Phone: (763) 559-1797

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Revised 11/22/2006