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Sanfilippo B disease: a re‐examination of a particular sibship after 12 years
Author(s) -
Di Natale P.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01804384
Subject(s) - lymphoblast , enzyme , antiserum , antibody , urine , biology , immunology , biochemistry , genetics , cell culture
Summary A particular sibship, with mild and severe types of Sanfilippo B disease within the same family, was re‐examined after 12 years. The phenotypes of the mild and of the severe patients were maintained, specifically the mental retardation. Cultures of lymphoblasts from the mild patient were established and proteins were electrophoresed in native conditions and then immunoblotted with specific antibody. Two bands of 182000 and 131000 Da were found, comigrating with the enzyme from normal lymphoblasts and the enzyme from normal urine. The data are discussed in relationship to the molecular defect underlying α ‐N‐acetylglucosaminidase deficiency and to the ability of the antiserum to react with normal, mutant, monomeric and multimeric forms of the enzyme.