Patrick Horn, MD, PhD, Chief Medical Officer at HemoShear Therapeutics, discusses treatment options for methylmalonic acidemia (MMA) and propionic acidemia (PA).
MMA and PA are rare inherited metabolic disorders in which the body is unable to process certain proteins and lipids properly. MMA is characterized by deficiency of methylmalonyl-CoA mutase, while PA is characterized by deficiency of propionyl-CoA carboxylase. These enzymes are directly involved in the breakdown of amino acids as well as cholesterol, certain fatty acids, and other substances necessary for metabolic processes. The deficiency of these enzymes leads to accumulation of these chemicals and metabolites which harms the mitochondria. Symptoms of these disorders are usually apparent during the first weeks of life and may include hypotonia, poor feeding, vomiting, failure to thrive, lethargy, dehydration and seizures. Without appropriate treatment, coma and death may result. In rare cases, the condition become apparent later in life and may be associated with less severe symptoms and findings.
Currently the standard of care for these patients is following a specific diet including a low protein intake and specific food formulas. Liver transplant to decrease the frequency of acute metabolic episodes is also an option. Additionally, HemoShear Therapeutics is developing HST5040 which could potentially reduce the levels of toxins associated with MMA and PA. HST5040 is currently being investigated in the phase 2 HERO trial.
To learn more about MMA, PA, and other metabolic disorders, visit https://checkrare.com/diseases/metabolic-disorders/
