The
mucopolysaccharidosis represent a broad spectrum of disorders due to the deficiency of one of a group of
enzymes which degrade three classes of
mucopolysaccharides:
heparan sulfate,
dermatan-sulfate and
keratan sulfate. The general phenotype includes coarse
facies, corneal clouding, hepatosplenomegaly, joint stiffness,
hernias,
dysostosis multiplex,
mucopolysaccharides excretion in the urine and metachromatic staining in peripheral leukocytes and bone marrow. Various components of the MPS phenotype are also found in the
mucolipidoses,
glycoprotein storage diseases. Detailed clinical and radiologic evaluation and identification of the type of MPS excreted in the urine help to narrow the diagnosis possibilities. Definitive diagnosis requires assay of specific
enzymes in various tissues such as cultured skin fibroblasts. For the moment there are 14 types of known
mucopolysaccharidoses, including several subtypes. They are classified into
Hurler's syndrome (MPS I-H);
Scheie's syndrome (MPS I-S); Hurler-
Scheie's syndrome (MPS I-H/S);
Hunter's syndrome A, B (MPS II-A, B);
Sanfilippo's syndrome A,B,C,D (MPS II-A,B,C,D);
Morquio's syndrome A,B,C (MSP IV-A,B,C); Maroteaux-Lamy's syndrome (MPS VI) and Sly's syndrome MPS VII). The
mucopolysaccharidosis incidence is around 0.04-0.3% of the newborn and they are 1.5% of all
congenital disorders. All
mucopolysaccharidosis are autosomal recessive disorders, except for
Hunter's syndrome that is X-linked and recessive. Patient suffering of MPS, usually, don't show clinical sign from their birth in fact they develop later their characteristics. The average surviving of this patients is around 20-30 years old, and the exitus is due to
cardiac failure or to
infections to the gastrointestinal tract or to instability of atlantoaxial joint.(ABSTRACT TRUNCATED AT 250 WORDS)