Chabás A, Coll M J, Aparicio M, Rodriguez Diaz E
Institut de Bioquímica Clínica, Cerdanyola, Barcelona.
J Inherit Metab Dis. 1994;17(6):724-31. doi: 10.1007/BF00712015.
Two adult siblings with an alpha-N-acetylgalactosaminidase deficiency are described. The patients' major features are massive lymphoedema and angiokeratoma corporis diffusum. Neurological evaluation performed in one of the patients was considered within normal limits. Blood type is A positive in each case. Ultrastructural examination of skin revealed numerous vacuoles in endothelial cells and pericytes. Fibroblast activity of alpha-N-acetylgalactosaminidase was decreased to 0.6-2% of mean normal value. Chromatography of urinary oligosaccharides showed abnormal bands identical to those excreted by two infantile patients with Schindler disease. The bands were identified as sialyloligosaccharides, and gas chromatography revealed the presence of N-acetylgalactosamine-rich compounds accounting for 30% of the total monosaccharide content of the oligosaccharide fraction. These findings confirm the heterogeneity of alpha-N-acetylgalactosaminidase deficiency and emphasize the need to consider this lysosomal storage disease in the differential diagnosis of patients with angiokeratoma.
本文描述了两名患有α-N-乙酰半乳糖胺酶缺乏症的成年兄弟姐妹。患者的主要特征是广泛性淋巴水肿和全身性血管角质瘤。对其中一名患者进行的神经学评估被认为在正常范围内。两例患者血型均为A阳性。皮肤超微结构检查显示内皮细胞和周细胞中有大量空泡。α-N-乙酰半乳糖胺酶的成纤维细胞活性降至正常平均值的0.6%-2%。尿寡糖色谱分析显示出与两名患有辛德勒病的婴儿患者排出的异常条带相同。这些条带被鉴定为唾液酸寡糖，气相色谱分析显示存在富含N-乙酰半乳糖胺的化合物，占寡糖部分总单糖含量的30%。这些发现证实了α-N-乙酰半乳糖胺酶缺乏症的异质性，并强调在血管角质瘤患者的鉴别诊断中需要考虑这种溶酶体贮积病。
