Delayed Development of Disturbed Mucopolysaccharide Metabolism in a Hurler Variant

Abstract

RECENTLY McKusick et al¹ have drawn attention to the broad spectrum of clinical disorders which may be associated with defective metabolism of mucopolysaccharides and suggested that there exist at least five different but related clinical entities. The criteria which were used for this classification were based upon clinical and genetic data as well as the urinary excretion of abnormal amounts and types of mucopolysaccharide. Several cases were described which could not be classified but which showed features suggestive of one or more of the proposed categories. In the present report two siblings are presented and discussed who have manifested a condition characterized by progressive dementia associated with diffuse involvement of the reticuloendothelial system. This condition has been difficult to diagnose but has many features of the disorders attributed to deranged mucopolysaccharide metabolism. The delayed development of direct evidence of abnormal storage and excretion of mucopolysaccharides in these cases