Tang T T, Esterly N B, Lubinsky M S, Oechler H W, Harb J M, Franciosi R A
Department of Pathology, Children's Hospital of Wisconsin, Milwaukee 53201.
Acta Derm Venereol. 1993 Dec;73(6):412-5. doi: 10.2340/0001555573412415.
GM1-gangliosidosis (GM1) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical assays to determine the enzyme deficiency. This approach is not only time-consuming and costly but also unavailable to most hospital laboratories. However, a presumptive diagnosis of GM1 may be made on the basis of coarse facial feature, foamy endothelial cells in the cutaneous blood vessels and ectopic Mongolian spots, if present. A more definitive diagnosis of GM1 is then made on the demonstration of deficiency of GM1 beta-galactosidase in leukocytes, plasma or cultured skin fibroblasts. Thus, a battery of enzyme tests may be averted.
GM1神经节苷脂贮积症（GM1）是一种代谢性贮积病，其鉴别诊断需要一系列生化检测来确定酶缺乏。这种方法不仅耗时且成本高，而且大多数医院实验室无法进行。然而，如果存在粗陋面容、皮肤血管中泡沫状内皮细胞和异位蒙古斑，则可根据这些表现作出GM1的初步诊断。然后，通过证明白细胞、血浆或培养的皮肤成纤维细胞中GM1β-半乳糖苷酶缺乏来作出GM1的更明确诊断。因此，可以避免一系列酶检测。
