Research Article| Volume 81, ISSUE 1, P13-21, January 1973

Histochemical and biochemical studies of urinary lipids in metachromatic leukodystrophy and Fabry's disease

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      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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