Kör, D;
Şeker-Yılmaz, B;
Bulut, FD;
Kılavuz, S;
Öktem, M;
Ceylaner, S;
Yıldızdaş, D;
(2019)
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
The Turkish Journal of Pediatrics
, 61
(3)
pp. 330-336.
10.24953/turkjped.2019.03.003.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations |
| Location: | Turkey |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.24953/turkjped.2019.03.003 |
| Publisher version: | https://doi.org/10.24953/turkjped.2019.03.003 |
| Language: | English |
| Additional information: | This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Propionic acidemia, novel mutation, clinical features, PCCA, PCCB |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10089377 |
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