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Two siblings of consanguineous parents had presented with a variety of findings indicative of juvenile metachromatic leukodystrophy (MLD). However, instead of the expected profound deficiency of arylsulfatase A (ARS A), their enzyme levels were about half-normal, and enzyme from fibroblasts had properties identical with the properties of enzyme from normal fibroblasts. Nevertheless, the hydrolysis of cerebroside sulfate by growing fibroblasts was markedly attenuated. Supplementation of the fibroblasts with cerebroside sulfatase activator normalized the response in the loading test. These results imply that the fibroblasts, and by extension the patients, are deficient in activator. Although the defective catabolism of cerebroside sulfate and the clinical manifestations in these patients mimic MLD, the molecular basis is distinct from the classical forms of the disorder.
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
January 1984,
Human genetics,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
April 1982,
Clinical genetics,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
May 1978,
Nihon rinsho. Japanese journal of clinical medicine,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
January 1975,
UCLA forum in medical sciences,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
April 1973,
Archives of neurology,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
January 1969,
Journal of neurochemistry,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
August 1971,
Biochemical and biophysical research communications,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
May 1983,
Proceedings of the National Academy of Sciences of the United States of America,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
March 1977,
American journal of human genetics,
R L Stevens, and
A L Fluharty, and
H Kihara, and
M M Kaback, and
L J Shapiro, and
B Marsh, and
K Sandhoff, and
G Fischer
September 1986,
Metabolic brain disease,
