Premium
Chronic hexosaminidase A and B deficiency
Author(s) -
Goldie William D.,
Holtzman David,
Suzuki Kunihiko
Publication year - 1977
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410020212
Subject(s) - hexosaminidase , sandhoff disease , asymptomatic , psychomotor retardation , medicine , enzyme deficiency , psychomotor learning , endocrinology , enzyme , disease , pathology , biology , biochemistry , psychiatry , alternative medicine , cognition
The leukocytes and fibroblasts from a mildly retarded 10‐year‐old girl who had a slowly progressive motor dysfunction showed absence of hexosaminidase A and B activities. Leukocytes from her asymptomatic mother and sister contained half the normal levels of both enzymes. This child is the second patient reported with a chronic form of hexosaminidase A and B deficiency, an enzyme deficiency previously described only in infants with rapidly progressive psychomotor deterioration (Sandhoff's disease).