Altassan Ruqaiah, Albert-Brotons Dimpna C, Alowain Mohammad, Al-Halees Zohair, Jaeken Jaak, Morava Eva
Department of Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
College of Medicine Alfasial University Riyadh Saudi Arabia.
JIMD Rep. 2022 Nov 22;64(2):123-128. doi: 10.1002/jmd2.12350. eCollection 2023 Mar.
We report successful heart transplantation in a phosphoglucomutase 1 deficient (PGM1-CDG) patient. She presented with facial dysmorphism, bifid uvula and structural heart defects. Newborn screening was positive for classic galactosemia. The patient was on a galactose-free diet for 8 months. Eventually, whole exome sequencing excluded the galactosemia and revealed PGM1-CDG. Oral D-galactose therapy was started. Rapid deterioration of the progressive dilated cardiomyopathy prompted heart transplantation at the age of 12 months. Cardiac function was stable in the first 18 months of follow-up, and hematologic, hepatic, and endocrine laboratory findings improved during D-galactose therapy. The latter therapy improves several systemic symptoms and biochemical abnormalities in PGM1-CDG but does not correct the heart failure related to cardiomyopathy. Heart transplantation has so far only been described in DOLK-CDG.
我们报告了1例磷酸葡萄糖变位酶1缺乏症（PGM1-CDG）患者心脏移植成功的病例。她表现出面部畸形、悬雍垂裂和结构性心脏缺陷。新生儿筛查经典型半乳糖血症呈阳性。该患者接受了8个月的无半乳糖饮食。最终，全外显子组测序排除了半乳糖血症，并确诊为PGM1-CDG。开始口服D-半乳糖治疗。进行性扩张型心肌病的快速恶化促使患者在12个月大时接受心脏移植。随访的前18个月心脏功能稳定，在D-半乳糖治疗期间血液学、肝脏和内分泌实验室检查结果有所改善。后一种治疗改善了PGM1-CDG的几种全身症状和生化异常，但不能纠正与心肌病相关的心力衰竭。迄今为止，心脏移植仅在肌张力障碍型先天性糖基化障碍（DOLK-CDG）中有报道。
