[Lysosome enzyme pseudodeficiency].
Inherited deficiency of lysosomal hydrolase often displays different clinical features. However, a greatly reduced enzyme activity may be observed in healthy individuals. This pseudo-deficiency concerns at least nine lysosomal hydrolases. When a deficiency has been proved, the presence of mutations known to cause pseudodeficiencies must be searched, above all in Tay-Sachs disease and metachromatic leukodystrophy.
Bronner
P
P
Service de Neurologie, Hôpital E. Muller, Mulhouse.
Rodier
G
G
Cohen
E
E
Derouiche
F
F
Boulay
C
C
Courtois
S
S
D002553:Cerebroside-Sulfatase / Q000172:deficiency; D003937:Diagnosis, Differential; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency
D002553:Cerebroside-Sulfatase; D001619:beta-N-Acetylhexosaminidases