Plasma lysosomal enzyme levels in patients with motor neuron disease.
beta-Hexosaminidase and acid-alpha-mannosidase were estimated in 17 adult patients with motor neuron disease. Normal plasma levels of beta-hexosaminidase ((A+B) and A) were found in all patients studied. Plasma acid alpha-mannosidase levels were normal in all but two patients with the spinal muscular atrophy type of the disorder. In addition, altered biochemical properties of acid alpha-mannosidase (i.e. Km, thermal stability) were found in the low-activity cases.
Michelakakis
H
H
Institute of Child Health, Children's Hospital, Ag. Sophia, Athens, Greece.
Papadimitriou
A
A
Divaris
R
R
Mavridou
I
I
Dimitriou
E
E
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008361:Mannosidases / Q000097:blood; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000097:blood* / Q000201:enzymology*; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
D008361:Mannosidases; D001619:beta-N-Acetylhexosaminidases