A New Type of Mucolipidosis with β-Galactosidase Deficiency and Glycopeptiduria

Abstract

Clinical, biochemical and electron microscopic studies on a patient of a new type of mucolipidosis are described. The patient is a 14-year-old Japanese boy who has coarse facies, dysostosis multiplex, neurologic deterioration, corneal clouding, macular cherry red spot, β-galactosidase deficiency, glycopeptiduria, and vacuolated cells in hepatic parenchyma, renal glomeruli, renal bone marrow and peripheral lymphocytes.