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MUCOPOLYSACCHARIDOSIS IN A THREE MONTHS OLD INFANT Clinical and Ultrastructural Studies
Author(s) -
TONDEUR M.,
VAMOSHURWITZ E.,
CREMER N.,
LOEB H.
Publication year - 1971
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.1651-2227.1971.tb06625.x
Subject(s) - medicine , ultrastructure , mucopolysaccharidosis , dermatan sulfate , pathology , parenchyma , glycosaminoglycan , mucopolysaccharidosis i , mucopolysaccharidosis type ii , heparan sulfate , liver parenchyma , physiology , anatomy , disease , enzyme replacement therapy
Summary A mucopolysaccharidosis is diagnosed in an infant aged 3 months. Clinical and X‐ray data are not typical, while biological studies reveal an increased mucopolysacchariduria affecting both heparan and dermatan sulfate. Study of lysosomal hydrolases in the liver discloses a normal activity of β‐galactosidase. Hepatic ultrastructure shows, in both parenchymal and Kupffer cells, the presence of clear inclusions analoguous to those found in typical mucopolysaccharidoses, although more numerous and generally smaller.