Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15.
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.
磷酸葡萄糖变位酶 1（PGM1）缺乏症是一种罕见的遗传疾病，影响糖原代谢、糖酵解和蛋白质糖基化。以前称为 GSD XIV，最近被重新归类为先天性糖基化障碍，PGM1-CDG。PGM1-CDG 通常表现为多系统疾病。大多数患者在婴儿期出现腭裂、肝功能异常和低血糖，但有些患者在成年期出现孤立性肌肉受累。一些患者会发展为危及生命的心肌病。与大多数其他 CDG 不同，PGM1-CDG 有有效的治疗选择，即 D-半乳糖，已证明该药物可改善许多患者的症状。因此，对 PGM1-CDG 患者进行早期诊断和开始治疗是至关重要的决策。在本文中，我们的国际专家组提出了针对 PGM1-CDG 的诊断、随访和管理指南。这些指南基于最佳的循证数据和专家意见，旨在为医疗保健提供者提供实用资源，以促进成功诊断和优化 PGM1-CDG 患者的管理。
