Pyruvate kinase M2 (PKM2) is a key glycolytic enzyme that regulates proliferating cell metabolism. The role of PKM2 in common diseases has been well established, but its role in rare diseases (RDs) is less understood. Over the past few years, PKM2 has emerged as a crucial player in RDs, including, neoplastic, respiratory, metabolic, and neurological disorders. Herein, we summarize recent findings and developments highlighting PKM2 as an emerging key player in RDs. We also discuss the current status of PKM2 modulation in RDs with particular emphasis on preclinical and clinical studies in addition to current challenges in the field.

中文翻译：

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罕见疾病和丙酮酸激酶 M2：一种有前景的治疗联系

丙酮酸激酶 M2 (PKM2) 是调节增殖细胞代谢的关键糖酵解酶。 PKM2 在常见疾病中的作用已得到充分证实，但其在罕见疾病 (RD) 中的作用尚不清楚。在过去的几年中，PKM2 已成为 RD 中的关键角色，包括肿瘤、呼吸系统、代谢和神经系统疾病。在此，我们总结了最近的发现和发展，强调 PKM2 作为 RD 中新兴的关键参与者。我们还讨论了 RD 中 PKM2 调节的现状，除了该领域当前的挑战外，还特别强调了临床前和临床研究。