The mucopolysaccaridoses: clinical and biochemical correlations
Horwitz, A.L.
American Journal of Mental Deficiency 84(2): 113-123
1979
ISSN/ISBN: 0002-9351 PMID: 115315 Document Number: 143963
The mucopolysaccharidoses (MPS) are hereditary diseases that result in deformities related to connective tissues. Some types of MPS lead to progressive mental retardation. Biochemically, these syndromes are characterized by excessive accumulation and excretion of various types of glycosaminoglycans (mucopolysaccharides). These diseases result from absence of various lysosomal enzymes involved in glycosaminoglycan degradation. The definition of the defects in the MPS has led to advancing diagnosis, counseling, and the possibilities of prenatal diagnosis of this group of dieseases.