Gatti R, Borrone C, Torreblanca J, Cavalieri S, de Martini I, Filocamo M, Antelo M C
An Esp Pediatr. 1979 Aug-Sep;12(8-9):563-74.
Mucolipidosis II is a severe inherited lysosomal storage disease characterized by profound psychomotor retardation, severe Hurler-like skeletal changes and normal urinary mucopolysaccharide excretion. Mucolipidosis II is a related disorder distinguished by its milder course, milder to absent mental retardation and survival to adult life. Cultivated fibroblasts from patients with both of these disorders display large inclusions on phase microscopy and reduced levels of many acid hydrolases. However, culture medium fibroblasts out the body fluids of affected patients show enormously elevated levels of these hydrolases. The lysosomal enzyme activities in serum, leukocytes, fibroblasts extracts and culture medium from seven patients with mucolipidosis II are similar to those found in four cases of mucolipidosis III. The findings of excessive excretion of sialyl-oligosaccharide in urine and of increased level of sialic acid compounds in cultured fibroblasts associated with a sialidase deficiency in leukocytes, fibroblasts and serum are discussed.
