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    Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase (PNPO) deficiency: a scoping review of 87 cases of PNPO deficiency.

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    Description:
    Accepted Article
    Embargo End Date:
    2021-09-05
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    Type
    Article
    Authors
    Alghamdi, Malak cc
    Bashiri, Fahad A cc
    Abdelhakim, Marwa
    Adly, Nouran
    Jamjoom, Dima Z
    Sumaily, Khalid M
    Alghanem, Bandar
    Arold, Stefan T. cc
    KAUST Department
    Biological and Environmental Sciences and Engineering (BESE) Division
    Bioscience Program
    Computational Bioscience Research Center (CBRC)
    Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
    Structural Biology and Engineering
    Date
    2020-09-16
    Embargo End Date
    2021-09-05
    Submitted Date
    2020-05-19
    Permanent link to this record
    http://hdl.handle.net/10754/665047
    
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    Abstract
    Pyridoxamine-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.
    Citation
    Alghamdi, 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
    Publisher
    Wiley
    Journal
    Clinical genetics
    DOI
    10.1111/cge.13843
    PubMed ID
    32888189
    Additional Links
    https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13843
    ae974a485f413a2113503eed53cd6c53
    10.1111/cge.13843
    Scopus Count
    Collections
    Articles; Biological and Environmental Sciences and Engineering (BESE) Division; Bioscience Program; Computational Bioscience Research Center (CBRC); Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division

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