Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
| Autor: | Cristiana Artiola, Amjad Mahasneh, Wajdi Amayreh, Nenad Blau, Sirio D'Amici, Jürgen G. Okun, Haneen Ababneh, Buthaina Al Rababah, Yongguo Yu, Alicia Hillert, Momen Al Aqeel, Kefah Al Qaqa, Manuela Tolve, Georg F. Hoffmann, Nan Shen, Nastassja Himmelreich, Carla Carducci |
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| Přispěvatelé: | University of Zurich, Blau, Nenad |
| Jazyk: | němčina |
| Rok vydání: | 2020 |
| Předmět: |
Research Report
Pediatrics medicine.medical_specialty Phenylalanine hydroxylase lcsh:QH426-470 Endocrinology Diabetes and Metabolism GTP cyclohydrolase I phenylketonuria Biopterin 610 Medicine & health Biochemistry Genetics and Molecular Biology (miscellaneous) lcsh:Diseases of the endocrine glands. Clinical endocrinology 1301 Biochemistry Genetics and Molecular Biology (miscellaneous) chemistry.chemical_compound genotyping newborn screening PKU incidence tetrahydrobiopterin Hyperphenylalaninemia Internal Medicine Medicine Tetrahydrobiopterin deficiency Newborn screening lcsh:RC648-665 biology business.industry Research Reports Tetrahydrobiopterin medicine.disease Dihydropteridine Reductase lcsh:Genetics 2712 Endocrinology Diabetes and Metabolism chemistry 10036 Medical Clinic 2724 Internal Medicine biology.protein business medicine.drug |
| Zdroj: | JIMD Reports, Vol 55, Iss 1, Pp 59-67 (2020) JIMD Reports |
| Popis: | Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs. Objective This study seeks for the first time to genotype and biochemically characterize patients diagnosed with hyperphenylalaninemia (HPA) at the Pediatric Metabolic Genetics Clinic at the King Hussein Medical Center, Amman, Jordan. Methods A total of 33 patients with HPA and 55 family members were investigated for pterins (neopterin and biopterin) and dihydropteridine reductase (DHPR) activity in dried blood spots. Patients with HPA were genotyped for phenylketonuria (PKU) and the genes involved in tetrahydrobiopterin (BH$_{4}$) metabolism. Results In total 20 patients were diagnosed with PKU due to phenylalanine hydroxylase (PAH) deficiency, 2 with GTP cyclohydrolase I (GTPCH) deficiency, 6 with DHPR deficiency, and 3 with the 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. Diagnosis was not possible in 2 patients. This study documents a high percentage of BH$_{4}$ deficiencies within HPA patients. With one exception, all patients were homozygous for particular gene variants. Conclusions This approach enables differentiation between PKU and BH$_{4}$ deficiencies and, thus, allows for critical selection of a specific treatment strategies. |
| Databáze: | OpenAIRE |
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