Hurler’s disease

Gaucher s disease type I Fabry s disease Hurler s disease Pompe s disease Hurler s syndrome... 

There are numerous inherited disorders of lysosomal metabolism in humans. These disorders result from the lack of a specific acid hydrolase and have several clinical manifestations. A variety of substances may accumulate that interfere with normal cell functions, as is the case with the lipidoses (Chapter 9) or mucopolysaccharides (glycosaminoglycans) in the Hurler s disease (gargoylism). 

Erythrohepatic protoporphyria Fructose intolerance Galactosaemia Gaucher s disease Glycogenosis (types I, III, IV) Haemochromatosis Hurler s disease Hypermethioninaemia Mucoviscidosis... 

C. O., Lucas, C. F., Rogers, T. R., Benson, P. F., Tansley, L. R., Mossman, J., Young, E. P., and Patrick, A. D. Reversal of clinical features of Hurler s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet II, 709-712 (1981). 

B30. Bitter, T., Muir, H., Mittwoch, U., and Scott, J. D., A contribution to the differential diagnosis of Hurler s disease and forms of Morquio s syndrome. J. Bone Joint Surg., Brit. Vol. 48, 637-645 (1966). 

In gargoylism or Hurler s disease (on hematoxylin-eosin stain, the cells of the anterior pituitary are large,... 

Studies using different methods of harvesting cultured human fibroblasts from a patient exhibiting mucopolysaccharidosis, and amniotic fluid, have indicated that reliable prenatal diagnosis of mucopolysaccharidosis can be performed only if the pericellular pool of glycosaminoglycans is removed by pretreatment with trypsin. Thus amniotic fluid cells from a pregnancy carrying a foetus affected by Hurler s disease revealed the expected increase in the level of S04-incorporation into fibroblasts only after mild proteolytic treatment. 

A number of inherited disorders are known in which the lysosomes lack a specific hydrolase. As a result there is a massive accumulation of the substrate of the missing enzyme within them. This occurs in Hurler s disease in which an enzyme needed for the breakdown of glycosamino-glycans is missing and various complications, including bone deformities, occur. 

I Hurler s disease Autosomal recessive Dwarfism, gargoyle facies, mental retardation, early death Chondroitin sulfate B and heparitin sulfate... 

Fig. G. Hurler s disease. Typical gargoyle facies. (From Jacobi and Waardenburg 1940) Fig. 7. A seven year old boy with Hurler s disease. (From Catel 1951)...

Fig. 8. Hurler s disease, a. Four year old boy with kyphosis of the upper lumbar spine, b. and c. The same patient measuring 92 cm at the age of 22 years. (From Schinz and Furtwangler 1928)...

Gills, J. P., R. Hobson, W. B. Hanley, and V. A. McKusick Electroretinography and fundus oculi findings in Hurler s disease and allied mucopolysaccharidoses. Arch. Ophthal. 74, 596 (1965). 

Marie, J. L., L. Marchand, J. Borel, J. Laroche et I. F. Foucin Considerations anatomo-cliniques sur la polydystrophie de Hurler. A propos un case. Encephale 44, 201 (1955). Maroteaux, P., and M. Lamy Hurler s disease, Morquio s disease, and related mucopolysaccharidoses. J. Pediat. 67, 312 (1965). 

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