3-Hydroxy-3-methylglutaryl-CoA lyase deficiency

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (pronounced as three-hy-drox-ee-three-meth-yl-gloo-tar-yl-co-a-ly-ase deficiency) is a rare genetic disorder that prevents the body from breaking down certain parts of proteins and lipids properly. This condition is inherited in an autosomal recessive manner.

Etymology

The term "3-Hydroxy-3-methylglutaryl-CoA lyase deficiency" is derived from the name of the enzyme that is deficient in individuals with this condition. The enzyme, 3-Hydroxy-3-methylglutaryl-CoA lyase, is involved in the metabolic pathway known as ketogenesis and leucine degradation.

Symptoms

The symptoms of 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency typically appear in the first year of life and can include vomiting, lethargy, and hypoglycemia. If untreated, the disorder can lead to metabolic acidosis, coma, and even death.

Diagnosis

Diagnosis of 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is typically made through genetic testing and the detection of elevated levels of certain substances in the urine and blood, such as 3-hydroxy-3-methylglutaric acid.

Treatment

Treatment for 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency typically involves a special diet that is low in protein and fat, and high in carbohydrates. Individuals with this condition may also require supplements to prevent malnutrition.

Related Terms

External links

Medical encyclopedia article on 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Wikipedia's article - 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency

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