Propionic Acidemia (PCCB) Targeted Testing

AKA: Propionyl-CoA Carboxylase Deficiency; Ketotic Glycinemia

Short Name: PCCB Targeted

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. Variants in either gene can cause propionic acidemia. The c.1606 A>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.

CPT Code: 81403

Turn-Around Time: 1-2 weeks