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Case Reports
. 2023 Jun 19:36:100986.
doi: 10.1016/j.ymgmr.2023.100986. eCollection 2023 Sep.

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

Katarina Štajer  1 , Neja Kovač  2 , Jaka Šikonja  1   2 , Matej Mlinarič  1 , Sara Bertok  1 , Jernej Brecelj  3 , Maruša Debeljak  4 , Jernej Kovač  4 , Gašper Markelj  5 , David Neubauer  6 , Rina Rus  7 , Mojca Žerjav Tanšek  1   2 , Ana Drole Torkar  1 , Aleksandra Zver  8 , Tadej Battelino  1   2 , Rosa Jiménez Torres  9   10 , Urh Grošelj  1   2
Affiliations
Case Reports

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

Katarina Štajer et al. Mol Genet Metab Rep. .

Abstract

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.

Keywords: Arts syndrome; PRPS1; PRS-I deficiency; PRS-I super-activity; Phosphoribosylpyrophosphate synthetase 1; X-linked Charcot-Marie-Tooth neuropathy type 5.

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Conflict of interest statement

Authors declare no conflict of interest.

Figures

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Fig. 1
PRISMA flow diagram for systematic literature review.
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