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Abstract
In patients with different courses of metachromatic leukodystrophy one can distinguish
between small unspecific metachromatic particles in the urinary sediment, and intra-
and extracellular sulfatides by histochemical staining with acriflavine. This method
is a reliable screening test. In hemizygote male patients with Fabry's disease, extra-
and intracellular PAS-positive and thionine-positive (red metachromasia) substances
are found. Quantitative analysis of glycolipids from 24 hour urines or urinary sediments
of control persons by thin-layer chromatography shows only small amounts of glucosyl
ceramide, lactosyl ceramide, trihexosyl ceramide, and tetrahexosyl ceramide. In cases
with late infantile and late adult metachromatic leukodystrophy, however, there is
a very high galactosyl sulfatide and less lactosyl sulfatide excretion. We were able
to detect an increased excretion of sulfatides in the urine in three adult persons
without any clinical symptoms (“preclinical” state). There is a difference between
male patients and subclinically ill female heterozygote carriers with Fabry's disease
in the glycolipid pattern of the urine (specific correlation of trihexosyl and digalactosyl
ceramidel. After bilateral kidney transplantation these glycolipids are no longer
excreted in high concentration.
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Article info
Publication history
Accepted:
May 7,
1972
Received:
December 27,
1971
Footnotes
☆Supported by the Deutsche Forschungsgemeinschaft (Sonderforschungsbereich 33), Stiftung Volkswagenwerk, and Forschungsmittel des Landes Niedersachsen.
☆☆Presented in part at the Third International Meeting of the International Society for Neurochemistry, July 5 to 9, 1971, Budapest, Hungary.
Identification
Copyright
© 1973 Published by Elsevier Inc.