20.500.12556/RUL-153125 Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review Phosphoribosyl 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. phosphoribosyl pyrophosphate synthetase 1 PRPS1 PRS-I super-activity PRS-I deficiency Arts syndrome X-linked Charcot-Marie-Tooth neuropathy type 5 true false true Angleški jezik Ni določen Članek v reviji 2023-12-18 16:12:46 2023-12-18 16:12:48 2024-09-27 12:21:10 0000-00-00 00:00:00 2023 0 0 9 str. Vol. 36, art. 100986 2023 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 61 2214-4269 10.1016/j.ymgmr.2023.100986 158433283 1-s2.0-S2214426923000320-main.pdf 1-s2.0-S2214426923000320-main.pdf 1 B9311CA8FD86D1923EDDD74B56945F52 bfc3646eed9824c0e07082ee416e77335932c125cd6213c4beda58d877303ca6 36ced06e-9db8-11ee-a59a-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=179022 https://www.sciencedirect.com/science/article/pii/S2214426923000320 1 e7fa361e-9db7-11ee-a59a-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=179021 Medicinska fakulteta 0 0 0