Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations
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 neurol...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2019-06-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/699 |
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| author | Deniz Kör Berna Şeker-Yılmaz Fatma Derya Bulut Sebile Kılavuz Murat Öktem Serdar Ceylaner Dinçer Yıldızdaş Neslihan Önenli-Mungan |
| author_facet | Deniz Kör Berna Şeker-Yılmaz Fatma Derya Bulut Sebile Kılavuz Murat Öktem Serdar Ceylaner Dinçer Yıldızdaş Neslihan Önenli-Mungan |
| author_sort | Deniz Kör |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-edee5b5b8b6a4d3b9e352bed1702ff0c |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-edee5b5b8b6a4d3b9e352bed1702ff0c2025-08-20T03:00:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-06-0161310.24953/turkjped.2019.03.003Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutationsDeniz Kör0Berna Şeker-Yılmaz1Fatma Derya Bulut2Sebile Kılavuz3Murat Öktem4Serdar Ceylaner5Dinçer Yıldızdaş6Neslihan Önenli-Mungan7Divisions of Pediatric Metabolism and Nutrition, Adana, Turkey.Department of Pediatric Metabolism, Mersin City Hospital, Mersin, Turkey.Department of Pediatric Metabolism, Adana City Hospital, Adana, Turkey.Divisions of Pediatric Metabolism and Nutrition, Adana, Turkey.Düzen Biochemistry Laboratories, Ankara, Turkey.Intergen Genetics Laboratories, Ankara, Turkey.Divisions of Pediatric Intensive Care Unit, Çukurova University Faculty of Medicine, Adana, Turkey.Divisions of Pediatric Metabolism and Nutrition, Adana, Turkey. 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. https://turkjpediatr.org/article/view/699PCCAPCCBPropionic acidemiaclinical featuresnovel mutation |
| spellingShingle | Deniz Kör Berna Şeker-Yılmaz Fatma Derya Bulut Sebile Kılavuz Murat Öktem Serdar Ceylaner Dinçer Yıldızdaş Neslihan Önenli-Mungan Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations The Turkish Journal of Pediatrics PCCA PCCB Propionic acidemia clinical features novel mutation |
| title | Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations |
| title_full | Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations |
| title_fullStr | Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations |
| title_full_unstemmed | Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations |
| title_short | Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations |
| title_sort | clinical features of 27 turkish propionic acidemia patients with 12 novel mutations |
| topic | PCCA PCCB Propionic acidemia clinical features novel mutation |
| url | https://turkjpediatr.org/article/view/699 |
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