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Sanfilippo 氏 A 综合征(粘多糖累积病ⅢA型,McKusick 25290)是一种常染色体隐性硫酸乙酰肝素变性疾病。病人严重痴呆和轻度下颌面骨发育不全,硫酸乙酰肝素过量蓄积于组织内,并于尿中排出。磺酰胺酶缺乏是形成 Sanfilippo 氏 A 综合征的病因。本文作者利用磺酰胺酶在高温中的特征,用白细胞和培养的皮肤成纤维细胞检测携带者。作者所用方法:肝素化血8～10ml,离心10分钟(600转/分),取出含白细胞上层液,再离心10分钟,800转/分,去掉血浆,然后收集含白细胞的沉淀物,用7ml 冰水溶解污染的红细胞,再加入7ml1.8%(W/V)NaCl 使其恢复等渗,白细胞
Sanfilippo’s syndrome A (Mucopolysaccharidosis type A, McKusick 25290) is an autosomal recessive heparan sulfate degenerative disorder. Patients with severe dementia and mild maxillofacial bone hypoplasia, excessive accumulation of heparan sulfate in the tissue, and excreted in the urine. Sulfamidase deficiency is the cause of Sanfilippo’s syndrome. The authors use the features of sulfamidase at high temperatures to detect carriers with leukocytes and cultured skin fibroblasts. The method used by the author: heparinized blood 8 ~ 10ml, centrifuged for 10 minutes (600 rev / min), remove the supernatant containing leukocytes, and then centrifuged 10 minutes, 800 r / min, remove the plasma, and then collect leukocyte-containing precipitate, Ice water dissolved contaminated red blood cells, then add 7ml1.8% (W / V) NaCl to restore isotonicity, white blood cells