Donoghue Sarah E, White Susan M, Tan Tiong Yang, Kowalski Remi, Morava Eva, Yaplito-Lee Joy
Department of Metabolic Medicine Royal Children's Hospital Melbourne Victoria Australia.
Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Victoria Australia.
JIMD Rep. 2020 Oct 19;57(1):29-37. doi: 10.1002/jmd2.12177. eCollection 2021 Jan.
We report a patient diagnosed with PGM1-CDG at 11 years of age after two biallelic likely pathogenic variants in were found on research genomic sequencing. To our knowledge, he is the first patient with PGM1-CDG to be reported with a restrictive cardiomyopathy. Other clinical manifestations included cleft palate, asymptomatic elevated transaminases, intellectual disability and myopathy resulting in exercise intolerance. He was trialed on oral galactose therapy in increasing doses for 18 weeks to assess if there was any biochemical and clinical benefit. His galactose was continued for a further 9 months beyond the initial galactose treatment period due to improvements in exercise tolerance and myopathy. Treatment with galactose demonstrated an improvement in liver function and myopathy with improved exercise tolerance. Treatment with galactose for 15 months did not change heart function and exercise stress test results were stable.
我们报告了一名11岁被诊断为PGM1-CDG的患者，其在研究性基因组测序中发现了两个双等位基因的可能致病变异。据我们所知，他是首例被报道患有限制性心肌病的PGM1-CDG患者。其他临床表现包括腭裂、无症状性转氨酶升高、智力残疾以及导致运动不耐受的肌病。他接受了为期18周的递增剂量口服半乳糖治疗试验，以评估是否有任何生化和临床益处。由于运动耐量和肌病有所改善，在最初的半乳糖治疗期之后，他又继续服用了9个月的半乳糖。半乳糖治疗显示肝功能和肌病有所改善，运动耐量提高。15个月的半乳糖治疗并未改变心脏功能，运动应激试验结果稳定。
