SNP Shot: Genomic Insights

3-hydroxy-3-methylglutaryl-CoA lyase deficiency, or HMG-CoA lyase deficiency, is a rare genetic condition. In individuals with this disorder, the body is unable to break down the amino acid leucine properly. Furthermore, the body cannot produce ketones, crucial energy sources during fasting or when food is scarce.

Symptoms of HMG-CoA lyase deficiency usually manifest in infancy, often within the first year. These symptoms include vomiting, diarrhea, dehydration, extreme fatigue (lethargy), and reduced muscle tone (hypotonia). During these episodes, individuals may experience dangerously low blood sugar (hypoglycemia) and a dangerous accumulation of acids in the blood (metabolic acidosis). Without treatment, the condition can lead to severe complications such as breathing difficulties, seizures, coma, and even death. These episodes are often brought on by illness, fasting, intense physical activity, or other forms of stress.

HMG-CoA lyase deficiency can sometimes be confused with Reye syndrome, a serious condition affecting children during recovery from viral infections like chickenpox or influenza. Reye syndrome is often linked to aspirin use during these infections.

Inheritance:

HMG-CoA lyase deficiency follows an autosomal recessive inheritance pattern. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The parents, who each carry one copy of the mutated gene, are typically unaffected and do not display symptoms of the condition.