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[Hereditary lysosomal diseases in Mexico. III. Laboratory diagnosis of sphingolipidosis].

Enzymatic determinations of the levels of lysosomal enzymes in serum or leukocytes samples have been carried out for the diagnosis of 7 sphingolipidosis. This methodology has allowed us to study 49 homozygotes and 33 close relatives at risk for the carrier state of a particular sphingolipidosis. So far we have diagnosed: 21 Gaucher's disease patients, 17 metachromatic leukodistrophy, 4 Niemann-Pick, 4 GM2 gangliosidosis, 2 Fabry and one GM1 gangliosidosis. Limitations in the performance and interpretation of the levels of the defective enzyme in heterozygotes, homozygotes and those variants not detected with the assays described are discussed.

Adult↗
PubMed1990

Immunocytochemical localization of sphingolipid activator protein 2 (SAP-2) in normal and SAP-deficient fibroblasts.

The intracellular localization of sphingolipid activator protein 2 (SAP-2) was determined immunocytochemically using an antiserum raised against a SAP-2 preparation from Gaucher spleen. The immunolabeling indicated that SAP-2 was largely localized in the lysosomes of fibroblasts from normal individuals. In some lysosomes the labeling was greatest around the perimeter of the matrix, suggesting an association between the activator and lysosomal membrane components. The labeling technique was also applied to fibroblasts from a patient with a unique sphingolipid storage disorder. Consistent with immunoblotting studies on electrophoretograms, both the patient and his affected fetal sibling were found to be deficient in immunoreactive SAP-2.

Cells, Cultured↗
PubMed1986

Sphingomyelin lipidosis variant with cirrhosis in the pediatric age group.

Two children with a variant of sphingomyelin lipidosis had otherwise unexplained cirrhosis that was histologically inactive and appeared to run an indolent course. The primary clinical problems involved the central nervous system, with vertical supranuclear ophthalmoplegia being the most distinctive feature. Biochemical analysis of cultured skin fibroblasts obtained from one of the children revealed that sphingomyelinase activity was 42% of control values. The typical inconspicuous hepatic storage and cirrhosis, coupled with the important morphologic finding of sea-blue histiocytes in the marrow, suggested that in cases of unexplained infantile or childhood cirrhosis the marrow should be closely examined for such histiocytes. Likewise, in cases of sea-blue histiocytes without evident etiology, with or without cirrhosis, this disease should be considered.

Adolescent↗
PubMed1988

[Study of the specificity of human lysosomal glycolipid hydrolases using synthetic fluorogenic substrates].

On the basis of o-acylamino-4-methylumbelliferon, a number of beta-galactosides and beta-glucosides have been synthesized. The fluorogenic compounds obtained differ by the length of acyl residues. 6- and 8-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranosides (6-HMGal and 8-HMGal) are shown to be substrates for human galactocerebroside-beta-D-galactosidase. 6-HMGal analogues with shorter acyl residues, octanoyl (OMGal) and butanoyl (BMGal), were cleaved by another type of beta-galactosidase, GM1-ganglioside-beta-galactosidase. It has been established that 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-glucopyranoside (HMGlc) is cleaved by human and animal glucocerebrosidase much slower than its chromogenic analogue (HMGlc). OMGlc did not exceed HNGlc either, though it is cleaved by glucocerebrosidase faster than HMGlc.

Catalysis↗