ArticleJIMD reports2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Follow-up and outcome of patients with primary BH4 deficiencies.Frontiers in neurologyPooled it
- Spectrum ofBiomedical reports · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.JIMD reports · 2023Article
- Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review.Children (Basel, Switzerland) · 2023Article
- Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.Frontiers in genetics · 2023Article
- Epidemiology of Phenylketonuria Disease in Jordan: Medical and Nutritional Challenges.Children (Basel, Switzerland) · 2022Article
- Mutation spectrum ofFrontiers in genetics · 2022Article
- Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.Frontiers in genetics · 2022Article
- Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.JIMD reports · 2020Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInformation 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.
objectiveThis 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.
methodsA 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
resultsIn 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
conclusionsThis approach enables differentiation between PKU and BH
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