The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 3
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations
Deniz Kör 1 ,Berna Şeker-Yılmaz 2 ,Fatma Derya Bulut 3 ,Sebile Kılavuz 1 ,Murat Öktem 4 ,Serdar Ceylaner 5 ,Dinçer Yıldızdaş 6 ,Neslihan Önenli-Mungan 1
1 Divisions of Pediatric Metabolism and Nutrition, Adana, Turkey
2 Department of Pediatric Metabolism, Mersin City Hospital, Mersin, Turkey
3 Department of Pediatric Metabolism, Adana City Hospital, Adana, Turkey
4 Düzen Biochemistry Laboratories, Ankara, Turkey
5 Intergen Genetics Laboratories, Ankara, Turkey
6 Divisions of Pediatric Intensive Care Unit, Çukurova University Faculty of Medicine, Adana, Turkey
DOI : 10.24953/turkjped.2019.03.003 Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. Turk J Pediatr 2019; 61: 330-336.

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 PCCAPCCB 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. Keywords : Propionic acidemia, novel mutation, clinical features, PCCA, PCCB

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