People with 3-Hydroxy-3-methyglutaric aciduria who rely on medical foods

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).

The signs and symptoms of HMG-CoA lyase deficiency usually appear within the first year of life. The 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.

Ian, Age 12

3-Hydroxy-3-methyglutaric aciduria · Arizona
Annual cost: $3600

Having better coverage will will certainly lower our costs. To have to pay escalating insurance premiums plus the cost of formula and ...

The Medical Nutrition Equity Act will provide key support for those Americans who rely on medical foods to survive and thrive.