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June 1973

Mucopolysaccharidoses: Relation of Elevated Cerebral Spinal Fluid to Mental Retardation

Author Affiliations

Bethesda, Md
From the Developmental and Metabolic Neurology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Md.

Arch Neurol. 1973;28(6):385-388. doi:10.1001/archneur.1973.00490240045007

Of the 14 patients with mucopolysaccharidosis studied, three belong to type I (Hurler), two to type II (Hunter), six to type III (Sanfilippo), and three to type V (Scheie). The principal new finding consists of the markedly elevated acid mucopolysaccharide (AMPS) levels in the cerebrospinal fluid (CSF) of the patients comprising the first three types, while the patients of type V had normal or only slightly elevated AMPS in their CSF. Since the patients of type V mucopolysaccharidosis were also the only ones who had unimpaired intellect, a positive correlation between the high levels of AMPS in the CSF and progressive mental deterioration is postulated. The composition of AMPS in the CSF of patients in the first three groups showed heparitin sulfate to be the predominant mucopolysaccharide.