Clinical and Biochemical Manifestations of Hyaluronidase Deficiency

Abstract

The mucopolysaccharidoses are lysosomal storage disorders caused by a genetic deficiency of enzymes that catalyze the degradation of glycosaminoglycans (mucopolysaccharides). These disorders are clinically variable and commonly associated with mental retardation, short stature, coarse facial features, organomegaly, and an accumulation of glycosaminoglycans in tissues. Hyaluronan (hyaluronic acid) is one of the major glycosaminoglycans and has a vital role in many physiologic processes.1–4 Genetic deficiencies of most of the lysosomal enzymes that catalyze the degradation of glycosaminoglycans have been identified, with the exception of hyaluronidase, a lysosomal endoglycosidase that catalyzes the degradation of hyaluronan.5–7 We describe the clinical, pathological, . . .