{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["36"],"submitter":["Stajer K"],"pubmed_abstract":["Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the <i>PRPS1</i> 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 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 <i>PRPS1</i> 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."],"journal":["Molecular genetics and metabolism reports"],"pagination":["100986"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10475845"],"repository":["biostudies-literature"],"pubmed_title":["Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review."],"pmcid":["PMC10475845"],"pubmed_authors":["Mlinaric M","Debeljak M","Zver A","Battelino T","Kovac N","Brecelj J","Drole Torkar A","Jimenez Torres R","Bertok S","Kovac J","Rus R","Sikonja J","Groselj U","Markelj G","Neubauer D","Stajer K","Zerjav Tansek M"],"additional_accession":[]},"is_claimable":false,"name":"Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.","description":"Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the <i>PRPS1</i> 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 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 <i>PRPS1</i> 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.","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Sep","modification":"2025-04-22T04:13:16.647Z","creation":"2025-04-05T20:54:17.986Z"},"accession":"S-EPMC10475845","cross_references":{"pubmed":["37670898"],"doi":["10.1016/j.ymgmr.2023.100986"]}}