Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature reviewŠtajer, Katarina (Avtor) Kovač, Neja (Avtor) Šikonja, Jaka (Avtor) Mlinarič, Matej (Avtor) Bertok, Sara (Avtor) Brecelj, Jernej (Avtor) Debeljak, Maruša (Avtor) Kovač, Jernej (Avtor) Markelj, Gašper (Avtor) Neubauer, David (Avtor) Rus, Rina (Avtor) Žerjav-Tanšek, Mojca (Avtor) Drole Torkar, Ana (Avtor) Zver, Aleksandra (Avtor) Battelino, Tadej (Avtor) Jiménez Torres, Rosa (Avtor) Grošelj, Urh (Avtor) phosphoribosyl pyrophosphate synthetase 1PRPS1PRS-I super-activityPRS-I deficiencyArts syndromeX-linked Charcot-Marie-Tooth neuropathy type 5Phosphoribosyl pyrophosphate synthetase 1 (PRS–I) 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 nonsyndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant – c.424G > A (p.Val142Ile) in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. In addition, we report the findings of a systemic literature review of all described male cases of Arts syndrome and CMTX5 as well as intermediate phenotypes. As already proposed by other authors, our results confirm PRS-I deficiency should be viewed as a phenotypic continuum rather than three separate syndromes because there are multiple reports of patients with an intermediary clinical presentation.20232023-12-18 16:12:46Članek v reviji153125sl