患者临床表现较轻，同时患有 PMM2-CDG 和遗传性果糖不耐受症。
Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.
机构信息
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
出版信息
Mol Genet Metab. 2023 Nov;140(3):107682. doi: 10.1016/j.ymgme.2023.107682. Epub 2023 Aug 9.
Abstract
We report a patient with an extremely rare, combined diagnosis of PMM2-CDG and hereditary fructose intolerance (HFI). By comparing with other patients, under-galactosylation was identified as a feature of HFI. Fructose/sorbitol/sucrose restriction was initiated right afterwards. The patient is at the mild end of the PMM2-CDG spectrum, raising the question of sorbitol's role in the pathogenesis of PMM2-CDG and whether fructose/sorbitol/sucrose restriction could benefit other PMM2-CDG patients. Additionally, epalrestat, an emerging potential PMM2-CDG therapy, may benefit HFI patients.
摘要
我们报告了一例极为罕见的 PMM2-CDG 与遗传性果糖不耐受（HFI）合并诊断的患者。通过与其他患者进行比较，发现低半乳糖血症是 HFI 的一个特征。随后立即开始限制果糖/山梨糖醇/蔗糖的摄入。该患者处于 PMM2-CDG 谱的轻度端，这引发了关于山梨糖醇在 PMM2-CDG 发病机制中的作用以及限制果糖/山梨糖醇/蔗糖是否能使其他 PMM2-CDG 患者获益的问题。此外，一种新兴的潜在 PMM2-CDG 治疗药物依帕司他可能对 HFI 患者有益。
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