Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations

Özet

Propionic acidemia (PA) is an inherited metabolic disease caused by thedeficiency of one of the four biotin-dependent enzymes propionyl-CoAcarboxylase (PCC), and is characterized by coma and death in unrecognizedpatients, additionally late diagnosis leads to severe developmental delayand neurological sequels. Manifestations of PA over time can includegrowth impairment, intellectual disability, seizures, basal ganglia lesions,pancreatitis, and cardiomyopathy. Other rarely reported complications includeoptic atrophy, hearing loss, premature ovarian insufficiency, and chronic renalfailure. Mutations in PCCA-PCCB genes cause the clinically heterogeneousdisease of PA. In this study, we investigate the mutation spectrum of PCCAPCCB genes and phenotypic features of 27 Turkish patients with PA from theSouth and Southeast parts of Turkey. We report 12 novel PA mutations, fiveaffecting the PCCA gene and 7 affecting the PCCB gene.