Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP d...

Full description

Bibliographic Details
Main Authors:	Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín
Format:	Article
Language:	English
Published:	MDPI AG 2021-09-01
Series:	International Journal of Neonatal Screening
Subjects:	purine nucleoside phosphorylase deficiency severe combined immunodeficiency newborn screening T-cell receptor excision circle
Online Access:	https://www.mdpi.com/2409-515X/7/4/62

Similar Items

Oligomeric Symmetry of Purine Nucleoside Phosphorylases
by: Boris Gomaz, et al.
Published: (2024-01-01)

Efficient Synthesis of Purine Nucleoside Analogs by a New Trimeric Purine Nucleoside Phosphorylase from <i>Aneurinibacillus migulanus</i> AM007
by: Gaofei Liu, et al.
Published: (2019-12-01)

Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development
by: Eyal Grunebaum, et al.
Published: (2020-06-01)

Cloning and expression of recombinant purine nucleoside phosphorylase in the methylotrophic yeast Pichia pastoris
by: Jaloliddin Abdurakhmanov, et al.
Published: (2023-12-01)

Computer-aided rational design of acyclovir analogs to inhibit purine nucleoside phosphorylase
by: Nusrat Jahan Selsi, et al.
Published: (2019-04-01)

Interactions of 2,6-substituted purines with purine nucleoside phosphorylase from Helicobacter pylori in solution and in the crystal, and the effects of these compounds on cell cultures of this bacterium
by: Marta Narczyk, et al.
Published: (2022-12-01)

Synthesis of New 5′-Norcarbocyclic Aza/Deaza Purine Fleximers - Noncompetitive Inhibitors of E.coli Purine Nucleoside Phosphorylase
by: Anastasia Khandazhinskaya, et al.
Published: (2022-05-01)

Tri-Cyclic Nucleobase Analogs and Their Ribosides as Substrates of Purine-Nucleoside Phosphorylases. II Guanine and Isoguanine Derivatives
by: Alicja Stachelska-Wierzchowska, et al.
Published: (2019-04-01)

Site-Selective Ribosylation of Fluorescent Nucleobase Analogs Using Purine-Nucleoside Phosphorylase as a Catalyst: Effects of Point Mutations
by: Alicja Stachelska-Wierzchowska, et al.
Published: (2015-12-01)

Design and Synthesis of New Modified Flexible Purine Bases as Potential Inhibitors of Human PNP
by: Anastasia Khandazhinskaya, et al.
Published: (2023-01-01)

Enzymatic Synthesis of Highly Fluorescent 8-Azapurine Ribosides Using a Purine Nucleoside Phosphorylase Reverse Reaction: Variable Ribosylation Sites
by: Goran Mikleušević, et al.
Published: (2013-10-01)

Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant
by: Nikit Shah, et al.
Published: (2019-01-01)

Tricyclic Nucleobase Analogs and Their Ribosides as Substrates and Inhibitors of Purine-Nucleoside Phosphorylases III. Aminopurine Derivatives
by: Alicja Stachelska-Wierzchowska, et al.
Published: (2020-02-01)

8‐Aminoguanine Induces Diuresis, Natriuresis, and Glucosuria by Inhibiting Purine Nucleoside Phosphorylase and Reduces Potassium Excretion by Inhibiting Rac1
by: Edwin K. Jackson, et al.
Published: (2018-11-01)

Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity
by: Laura Yeates, et al.
Published: (2017-06-01)

Radical Dehalogenation and Purine Nucleoside Phosphorylase <i>E. coli</i>: How Does an Admixture of 2′,3′-Anhydroinosine Hinder 2-fluoro-cordycepin Synthesis
by: Alexey L. Kayushin, et al.
Published: (2021-04-01)

Evaluating antitumor activity of Escherichia coli purine nucleoside phosphorylase against head and neck patient‐derived xenografts
by: Regina Rab, et al.
Published: (2023-02-01)

Strained Conformations of Nucleosides in Active Sites of Nucleoside Phosphorylases
by: Irina A. Il’icheva, et al.
Published: (2020-04-01)

Polymorphisme de la purine nucléoside phosphorylase érythrocytaire bovine
by: R. Quéval, et al.
Published: (1984-03-01)

Purine Nucleoside Phosphorylase mediated molecular chemotherapy and conventional chemotherapy: A tangible union against chemoresistant cancer
by: Joshi Swapna, et al.
Published: (2011-08-01)

Trimeric Architecture Ensures the Stability and Biological Activity of the Calf Purine Nucleoside Phosphorylase: In Silico and In Vitro Studies of Monomeric and Trimeric Forms of the Enzyme
by: Alicja Dyzma, et al.
Published: (2023-01-01)

Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia către diagnosticul unui caz de deficit de purin nucleozid fosforilază, o boală rară si severă
by: Cochino Alexis-Virgil, et al.
Published: (2014-09-01)

The clinical diagnostic value of a study of the activity of enzymes of the guanyl branch of purine metabolism in patients with ankylosing spondyloarthritis
by: Aleksandr Borisovich Zborovskiy, et al.
Published: (2010-04-01)

Multi-Enzymatic Cascades in the Synthesis of Modified Nucleosides: Comparison of the Thermophilic and Mesophilic Pathways
by: Ilja V. Fateev, et al.
Published: (2021-04-01)

Unfolding New Roles for Guanine-Based Purines and Their Metabolizing Enzymes in Cancer and Aging Disorders
by: P. Di Iorio, et al.
Published: (2021-04-01)

The purine nucleoside phosphorylase pnp-1 regulates epithelial cell resistance to infection in C. elegans.
by: Eillen Tecle, et al.
Published: (2021-04-01)

Enzymatic synthesis and phosphorolysis of 4(2)-thioxo- and 6(5)-azapyrimidine nucleosides by E. coli nucleoside phosphorylases
by: Vladimir A. Stepchenko, et al.
Published: (2016-12-01)

Correction: The purine nucleoside phosphorylase pnp-1 regulates epithelial cell resistance to infection in C. elegans.
by: Eillen Tecle, et al.
Published: (2022-07-01)

Comparative Study of Starch Phosphorylase Genes and Encoded Proteins in Various Monocots and Dicots with Emphasis on Maize
by: Guowu Yu, et al.
Published: (2022-04-01)

Production of Modified Nucleosides in a Continuous Enzyme Membrane Reactor
by: Isabel Thiele, et al.
Published: (2023-03-01)

Anion exchange resins in phosphate form as versatile carriers for the reactions catalyzed by nucleoside phosphorylases
by: Julia N. Artsemyeva, et al.
Published: (2020-10-01)

Molecular Functions and Pathways of Plastidial Starch Phosphorylase (PHO1) in Starch Metabolism: Current and Future Perspectives
by: Noman Shoaib, et al.
Published: (2021-09-01)

The chemoenzymatic synthesis of clofarabine and related 2′-deoxyfluoroarabinosyl nucleosides: the electronic and stereochemical factors determining substrate recognition by E. coli nucleoside phosphorylases
by: Ilja V. Fateev, et al.
Published: (2014-07-01)

Insights to improve the activity of glycosyl phosphorylases from Ruminococcus albus 8 with cello-oligosaccharides
by: Alem Storani, et al.
Published: (2023-04-01)

Comparative Analysis of Enzymatic Transglycosylation Using <i>E.</i> <i>coli</i> Nucleoside Phosphorylases: A Synthetic Concept for the Preparation of Purine Modified 2′-Deoxyribonucleosides from Ribonucleosides
by: Mikhail S. Drenichev, et al.
Published: (2022-03-01)

Synthesis of Cyclobutane Analogue 4: Preparation of Purine and Pyrimidine Carbocyclic Nucleoside Derivatives
by: Noha Hasaneen, et al.
Published: (2019-09-01)

Broadening the Substrate Specificity of Cellobiose Phosphorylase from <i>Clostridium thermocellum</i> for Improved Transformation of Cellodextrin to Starch
by: Yuanyuan Zhang, et al.
Published: (2023-09-01)

Brain-Type Glycogen Phosphorylase (PYGB) in the Pathologies of Diseases: A Systematic Review
by: Caiting Yang, et al.
Published: (2024-02-01)

Efficient Synthesis of α-Branched Purine-Based Acyclic Nucleosides: Scopes and Limitations of the Method
by: Jan Frydrych, et al.
Published: (2020-09-01)

Purine metabolism in plant pathogenic fungi
by: Manli Sun, et al.
Published: (2024-02-01)