别名 CDG It、CDG syndrome type It、CDG-It + [20] |
简介 A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycaemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. |
靶点- |
作用机制 半乳糖替代物 |
在研机构 |
非在研适应症- |
最高研发阶段临床2期 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
开始日期2024-02-01 |
申办/合作机构 |
开始日期2022-12-14 |
申办/合作机构 ![]() |
开始日期2022-09-01 |
申办/合作机构 |