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

ÖKTEM R. M.

Turkish Journal Of Pediatrics, cilt.61, ss.330-336, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 61
  • Basım Tarihi: 2019
  • Doi Numarası: 10.24953/turkjped.2019.03.003
  • Dergi Adı: Turkish Journal Of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.330-336
  • Anahtar Kelimeler: Propionic acidemia, novel mutation, clinical features, PCCA, PCCB, COA CARBOXYLASE, MANAGEMENT, PCCA
  • Gazi Üniversitesi Adresli: Hayır

Özet

Propionic acidemia (PA) is an inherited metabolic disease caused by the deficiency of one of the four biotin-dependent enzymes propionyl-CoA carboxylase (PCC), and is characterized by coma and death in unrecognized patients, additionally late diagnosis leads to severe developmental delay and neurological sequels. Manifestations of PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure. Mutations in PCCA-PCCB genes cause the clinically heterogeneous disease of PA. In this study, we investigate the mutation spectrum of PCCA-PCCB genes and phenotypic features of 27 Turkish patients with PA from the South and Southeast parts of Turkey. We report 12 novel PA mutations, five affecting the PCCA gene and 7 affecting the PCCB gene.