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MUCOLIPIDOSIS II (I‐CELL DISEASE) A Clinical and Biochemical Study
Author(s) -
WIESMANN ULRICH N.,
VASSELLA FRANCO,
HERSCHKOWITZ NORBERT N.
Publication year - 1974
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1974.tb04343.x
Subject(s) - mucolipidosis , medicine , lysosomal storage disease , pathology , mucopolysaccharidosis , mucopolysaccharidosis i , connective tissue , bone marrow , cell , enzyme , hurler syndrome , extracellular , disease , enzyme replacement therapy , biochemistry , biology
Summary The diagnosis of mucolipidosis I1 (I‐cell disease) was made in a patient with a Hurler like appearance but only borderline muco‐polysacchariduria. The cultured fibroblasts of high doses of prednison, which resulted in a further increase in the enzyme activity. On the ultrastructural level there was the storage of polymorphous material in the liver and in the peripheral nerve. Vacuolated cells were present in the peripheral leucocytes and in the bone marrow. These findings indicate that the lysosmal enzyme depletion in the cells in the patient could be similar to that found in cultured cells. However, the clinical picture could also be caused by the excess activity of lysosomal enzymes in the extracellular fluids which are able to degrade the matrix substance of the connective tissues and could mimic a mucopolysaccharidosis.