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Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
Author(s) -
Andria Generoso,
Natale Paola,
Giudice Ennio,
Strisciuglio Pietro,
Murino Patrizia
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb00832.x
Subject(s) - heparan sulfate , medicine , excretion , gastroenterology , endocrinology , heparin
Clinical heterogeneity for Sanfilippo B syndrome (MPS III B) in the same family has never been reported previously. We describe two clinically severe cases and one clinically mild case of MPS III B in a Neapolitan sibship. We could not detect N‐acetyl‐α‐D‐glucosaminidase activity in the sera of either the severe or mild cases. Mucopolysac‐chariduria mainly due to heparan sulfate excretion was consistently high in the severely affected patients and extremely variable in the mildly affected one.