Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
PKU incidence
genotyping
newborn screening
phenylketonuria
tetrahydrobiopterin
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
09
03
2020
revised:
27
04
2020
accepted:
04
05
2020
entrez:
9
9
2020
pubmed:
10
9
2020
medline:
10
9
2020
Statut:
epublish
Résumé
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. 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. 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 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 This approach enables differentiation between PKU and BH
Sections du résumé
BACKGROUND
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
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
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
RESULTS
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
CONCLUSIONS
CONCLUSIONS
This approach enables differentiation between PKU and BH
Identifiants
pubmed: 32905092
doi: 10.1002/jmd2.12130
pii: JMD212130
pmc: PMC7463056
doi:
Types de publication
Journal Article
Langues
eng
Pagination
59-67Informations de copyright
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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