Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type...

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Bibliographic Details
Main Authors: Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Phosphoribosylpyrophosphate synthetase 1
PRPS1
PRS-I super-activity
PRS-I deficiency
Arts syndrome
X-linked Charcot-Marie-Tooth neuropathy type 5
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000320

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http://www.sciencedirect.com/science/article/pii/S2214426923000320

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