Hepatic acid mucopolysaccharides in the mucopolysaccharidoses type I, II and III

Abstract

Summary 1. Acid mucopolysaccharides (AMPS) were isolated from hepatic tissue from 3 patients with Hurler syndrome (type I mucopolysaccharidoses), 1 with the Hunter syndrome (type II) and 2 with the Sanfilippo syndrome (type III). 2. The AMPS which constituted 4 to 6% of the dry liver weight were almost exclusively heparan sulfate in the type III patients and a mixture of heparan and dermatan sulfate in the type I and II patients with dermatan sulfate predominant in 1 of the type I patients but heparan sulfate dominant in each of the others. 3. The AMPS were divided into a series of fractions by anion exchange chromatography: the distribution was dependent on the type of AMPS, i.e. heparan or dermatan sulfate and the extent of their sulfation. 4. The fractions of either AMPS on gel filtration chromatography tended to be polydisperse with a mean size generally considerably smaller than that of either heparan sulfate from human placental tissue or dermatan sulfate from human umbilical cords. Dermatan sulfate eluted from the type I or II livers from the anion exchange resin with 2.0 M saline contained components whose molecular weight approximated that of the native material.