Tohoku J. Exp. Med., 1972, 107 (4)

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

TADAO ORII, RYOJI MINAMI, KAZUKO SUKEGAWA, SHIGEO SATO, SATOSHI TSUGAWA, KIYOTAKA HORINO, RYOICHI MIURA and TOORU NAKAO

Department of Pediatrics, Sapporo Medical College, Sapporo

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.

Key words ——mucolipidosis; β-halactosidase; glycopeptiduria; cherry red spot; foam cell

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Tohoku J. Exp. Med., 1972, 107, 303-315