Propionic acidemia is an autosomal recessive inborn error of metabolism. The disease is clinically very heterogeneous and characterized by metabolic ketoacidosis, vomiting, lethargy, and hypotonia. It is caused by a deficiency of propionyl-CoA carboxylase, an enzyme involved in the catabolism of branched chain amino acids, odd-numbered chain length fatty acids, and cholesterol. The enzyme is composed of α and β subunits which are encoded by the PCCA and PCCB genes, respectively. Mutations in either gene can cause propionic acidemia. The c.1606A>G (p.Asn536Asp) variant in exon 15 of the PCCB gene is the most frequent pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.1606A>G variant.
1 - 2 weeks