Boyer Suzanne W, Johnsen Christin, Morava Eva
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Trends Mol Med. 2022 Jun;28(6):463-481. doi: 10.1016/j.molmed.2022.04.003. Epub 2022 May 10.
Congenital disorders of glycosylation (CDG) are a group of more than 160 inborn errors of metabolism affecting multiple pathways of protein and lipid glycosylation. Patients present with a wide range of symptoms and therapies are only available for very few subtypes. Specific nutritional treatment options for certain CDG types include oral supplementation of monosaccharide sugars, manganese, uridine, or pyridoxine. Additional management includes specific diets (i.e., complex carbohydrate or ketogenic diet), iron supplementation, and albumin infusions. We review the dietary management in CDG with a focus on two subgroups: N-linked glycosylation defects and GPI-anchor disorders.
先天性糖基化障碍（CDG）是一组超过160种的先天性代谢缺陷，影响蛋白质和脂质糖基化的多个途径。患者表现出广泛的症状，并且仅对极少数亚型有可用的治疗方法。某些CDG类型的特定营养治疗选择包括口服补充单糖、锰、尿苷或吡哆醇。其他管理措施包括特定饮食（即复合碳水化合物或生酮饮食）、铁补充和白蛋白输注。我们回顾了CDG的饮食管理，重点关注两个亚组：N-连接糖基化缺陷和糖基磷脂酰肌醇（GPI）锚定障碍。
