What is Propionic Acidemia Market Report?

Propionic acidemia is a metabolic disorder that occurs due to accumulation of propionic acid in the absence or defective form of the enzyme propionyl-coenzyme A (CoA) carboxylase. It is inherited in a autosomal recessive pattern, i.e. occur when an individual inherits an abnormal gene from each parent. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy.

The current treatment regimens in Propionic Acidemia are focused on managing symptoms and providing support. There is no specific therapy or cure for the disease. The optimal management of patients is best achieved by a team of specialists involved in the care of people which include; Nutritionist, Genetics professional, Developmental specialist, Neurologist, Physical therapist and occupational therapist.

The Symptomatic treatment options include: aggressive treatment of decompensation events, special protein managed diet, medications such as carnitine, avoidance of stressors (such as fasting or illness) that can lead to a decompensation event and in some cases liver transplant. The complete management of Propionic Acidemia involves treating manifestations, preventing primary manifestations and secondary complications, monitoring, avoiding certain agents/circumstances and evaluation of relatives at risk.

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