Premium
CLINICAL, BIOCHEMICAL AND ULTRASTRUCTURAL STUDIES OF AN ATYPICAL FORM OF MUCOPOLYSACCHARIDOSIS
Author(s) -
LOEB H.,
TONDEUR M.,
TOPPET M.,
CREMER N.
Publication year - 1969
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.1651-2227.1969.tb04710.x
Subject(s) - medicine , ultrastructure , mucopolysaccharidosis , glycosaminoglycan , mucopolysaccharidosis i , pathology , sister , disease , enzyme replacement therapy , anatomy , sociology , anthropology
Summary Two children, brother and sister, presenting a clinically peculiar form of mucopolysaccharidosis are reported. There exists a discrepancy between clinical and radiological data and biochemical findings. Enzyme study of the liver discloses a striking hyperactivity of the acid /J‐galactosidase. Hepatic ultrastructure differs from that of other previous descriptions of mucopolysaccharidoses, demonstrating a complex storage of lipids and mucopolysaccharides within swollen lysosomes.