Kindler A, Klein U, von Figura K
Hoppe Seylers Z Physiol Chem. 1977 Nov;358(11):1431-8. doi: 10.1515/bchm2.1977.358.2.1431.
The characterization of intracellularly stored glycosaminoglycans from organs of a patient suffering from mucopolysaccharidosis III A (Sanfilippo A disease) is described. Both heparan sulfate and galactosamine-containing glycosaminoglycans (chondroitin sulfate, dermatan sulfate) are accumulated in the liver, whereas in the other organs (spleen, kidney, heart, cerebrum, cerebellum) heparan sulfate is almost the only glycosaminoglycan stored. It is shown by [3H]NaBH4 reduction and subsequent identification of the 3H-labelled sugar alcohols that heparan sulfate is degraded in all organs by at least two endoglycosidases, an endoglucuronidase and an endoglucosaminidase, to fragments of low molecular weight (Mr approximately 2 000-6 600).
本文描述了对一名患有黏多糖贮积症 III A 型（Sanfilippo A 病）患者器官内细胞内储存的糖胺聚糖的特征分析。硫酸乙酰肝素和含半乳糖胺的糖胺聚糖（硫酸软骨素、硫酸皮肤素）在肝脏中蓄积，而在其他器官（脾脏、肾脏、心脏、大脑、小脑）中，硫酸乙酰肝素几乎是唯一储存的糖胺聚糖。通过[3H]NaBH4 还原及随后对 3H 标记糖醇的鉴定表明，硫酸乙酰肝素在所有器官中至少被两种内切糖苷酶（一种内切葡糖醛酸酶和一种内切葡糖胺酶）降解为低分子量片段（Mr 约为 2000 - 6600）。
