Walsh & Hoyt: Lysosomal Storage Diseases

There are six readily distinguishable forms of mucopolysaccharidoses. The disorders each result from deficiency of lysosomal enzymes involved in the degradation of dermatan sulfate, heparan sulfate, or keratan sulfate. Incompletely degraded mucopolysaccharides accumulate throughout the body. These products are also excreted in the urine. All are inherited in an autosomal-recessive pattern, except for MPS type II (Hunter syndrome) which is inherited in an X-linked fashion. Mucopolysaccharoidosis IH (MPSIH, Hurler disease). Mucopolysaccharoidosis IS (Scheie syndrome). Hurler-Scheie compound (MPS IHS). MPSII (Hunter syndrome). MPSIII (Sanfilippo syndrome). Morquio syndrome (MPSIV). MPSVI (Maroteaux-Lamy syndrome). MPSVII (Sly syndrome). Sialidoses. Mucolipidoses. Sphingolipidoses. Gaucher disease. Farber lipogranulomatosis. Fabry disease. Niemann-Pick disease.