%0 Case Reports
%T Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
%A Štajer K
%A Kovač N
%A Šikonja J
%A Mlinarič M
%A Bertok S
%A Brecelj J
%A Debeljak M
%A Kovač J
%A Markelj G
%A Neubauer D
%A Rus R
%A Žerjav Tanšek M
%A Drole Torkar A
%A Zver A
%A Battelino T
%A Jiménez Torres R
%A Grošelj U
%J Mol Genet Metab Rep
%V 36
%N 0
%D 2023 Sep
%M 37670898
%F 2.082
%R 10.1016/j.ymgmr.2023.100986
%X Phosphoribosylpyrophosphate 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 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 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.