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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

American journal of medical genetics. Part A - 1 Sept 2024

Gürbüz Berrak Bilginer, Gülbakan Basri, Özgül Rıza Köksal, Yalnızoğlu Dilek, Yılmaz Didem Yücel, Göçmen Rahşan, Koşukcu Can, Kandemir Nurgün, Acar Neşe Vardar, Salih Bekir, Dursun Ali

Abstract excerpt

Proline-5-carboxylate reductase 2, encoded by PYCR2 gene, is an enzyme that catalyzes the last step of proline synthesis from pyrroline-5-carboxylate synthetase to proline. PYCR2 gene defect causes hypomyelinating leukodystrophy 10. Up until now, to our knowledge around 38 patients with PYCR2 defect have been reported. Herein, we describe clinical, neuroradiological, biochemical findings, and metabolomic...

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PMID: 38709052
DOI: 10.1002/ajmg.a.63645

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