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dc.contributor.authorAlghamdi, Malak
dc.contributor.authorBashiri, Fahad A
dc.contributor.authorAbdelhakim, Marwa
dc.contributor.authorAdly, Nouran
dc.contributor.authorJamjoom, Dima Z
dc.contributor.authorSumaily, Khalid M
dc.contributor.authorAlghanem, Bandar
dc.contributor.authorArold, Stefan T.
dc.date.accessioned2020-09-09T13:55:22Z
dc.date.available2020-09-09T13:55:22Z
dc.date.issued2020-09-16
dc.date.submitted2020-05-19
dc.identifier.citationAlghamdi, M., Bashiri, F. A., Abdelhakim, M., Adly, N., Jamjoom, D. Z., Sumaily, K. M., … Arold, S. T. (2020). Phenotypic and molecular spectrum of pyridoxamine-5′-phosphate oxidase ( PNPO ) deficiency: a scoping review of 87 cases of PNPO deficiency. Clinical Genetics. doi:10.1111/cge.13843
dc.identifier.issn0009-9163
dc.identifier.pmid32888189
dc.identifier.doi10.1111/cge.13843
dc.identifier.urihttp://hdl.handle.net/10754/665047
dc.description.abstractPyridoxamine-5'-phosphate oxidase (PNPO) deficiency is an autosomal recessive PLP-vitamin-responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Prematurity and fetal distress, combined with neonatal seizures, are other associated key characteristics. The phenotype results from a dependency of pyridoxal 5'-phosphate (PLP) which regulates several enzymes in the body. We present the phenotypic and genotypic spectrum of (PNPO) deficiency based on a literature review (2002 to 2020) of reports (n = 33) of patients with confirmed PNPO deficiency (n = 87). All patients who received PLP (n = 36) showed a clinical response, with a complete dramatic PLP response with seizure cessation observed in 61% of patients. In spite of effective seizure control with PLP, approximately 56% of patients affected with PLP-dependent epilepsy suffer developmental delay/intellectual disability. There is no diagnostic biomarker, and molecular testing required for diagnosis. However, we noted that cerebrospinal fluid (CSF) PLP was low in 81%, CSF glycine was high in 80% and urinary VLA was high in 91% of the cases. We observed only a weak correlation between the severity of PNPO protein disruption and disease outcomes, indicating the importance of other factors, including seizure onset and time of therapy initiation. We found that prematurity, the delay in initiation of PLP therapy and early onset of seizures correlate with a poor neurocognitive outcome. Given the amenability of PNPO to PLP therapy for seizure control, early diagnosis is essential. This article is protected by copyright. All rights reserved.
dc.publisherWiley
dc.relation.urlhttps://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13843
dc.rightsArchived with thanks to Clinical genetics
dc.titlePhenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase (PNPO) deficiency: a scoping review of 87 cases of PNPO deficiency.
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentBioscience Program
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.contributor.departmentComputer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
dc.contributor.departmentStructural Biology and Engineering
dc.identifier.journalClinical genetics
dc.rights.embargodate2021-09-05
dc.eprint.versionPost-print
dc.contributor.institutionMedical Genetics Division, Department of Pediatrics, College of MedicineKing Saud University Riyadh Saudi Arabia
dc.contributor.institutionDepartment of PediatricsKing Saud University Medical City Riyadh Saudi Arabia
dc.contributor.institutionNeurology division, Department of Pediatrics, College of MedicineKing Saud University Riyadh Saudi Arabia
dc.contributor.institutionCollege of Medicine Research Center, College of MedicineKing Saud University Riyadh Saudi Arabia
dc.contributor.institutionDepartment of Radiology and Medical Imaging, College of MedicineKing Saud University Riyadh Saudi Arabia
dc.contributor.institutionClinical Biochemistry Unit, Department of Laboratory MedicineKing Saud University Medical City, King Saud University Riyadh Saudi Arabia
dc.contributor.institutionMedical Research Core Facility and Platforms (MRCFP), King Abdullah International Medical, Research Center/King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King, Abdulaziz Medical City (KAMC), NGHA Riyadh Saudi Arabia
dc.contributor.institutionCentre de Biochimie Structurale, CNRS, INSERMUniversité de Montpellier Montpellier France
kaust.personAbdelhakim, Marwa
kaust.personArold, Stefan T.
dc.date.accepted2020-08-31
refterms.dateFOA2020-09-09T13:56:25Z


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