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Results for “Sphingolipidoses”

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At least 37 records · Page 2Linked to original sources
PubMed1989

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses.

We describe a patient who presented shortly after birth with hyperkinetic behaviour, myoclonia, respiratory insufficiency and hepatosplenomegaly. Gaucher-like storage cells were found in bone marrow. A liver biopsy showed massive lysosomal storage morphologically different to that in known lipid storage disorders. Biochemically, the patient had partial deficiencies of beta-galactocerebrosidase, beta-glucocerebrosidase and ceramidase in skin fibroblast extracts, but the sphingomyelinase activity was normal. Glucosyl ceramide and ceramide were elevated in liver tissue. Loading of cultured fibroblasts with radioactive sphingolipid precursors indicated a profound defect in ceramide catabolism. Immunological studies in fibroblasts showed a total absence of cross-reacting material to sphingolipid activator protein 2 (SAP-2). The patient died at 16 weeks of age. The fetus from his mother's next pregnancy was similarly affected. The possibility that the disorder results from a primary defect at the level of SAP-2 is discussed. We have named this unique disorder SAP deficiency.

Consanguinity↗
PubMed1993

Diagnosing sphingolipidoses in murine and human embryos.

The aim of this study was to diagnose lipid storage diseases in embryos at the preimplantation stage. Two parallel approaches were employed. Firstly, activities of several sphingolipid hydrolases were determined in extracts of murine embryos and also human oocytes and polyspermic embryos. Sensitive fluorescent or fluorogenic procedures provided indications that Tay-Sachs, Gaucher and Krabbe diseases might be diagnosed in one human blastomere, while for Niemann-Pick disease two might be required. Secondly, pyrene lipids were administered into murine embryos and their fluorescence was quantified by computerized imaging microscopy. As a model of Gaucher disease, the fluorescent substrate pyrene glucosylceramide was administered into murine embryos in the presence or absence of an inhibitor of the enzyme beta-glucosidase. Because of decreased degradation of the substrate in enzyme-inhibited cells, the fluorescence per blastomere was considerably greater relative to those which received no inhibitor. The results indicated that lipid storage diseases might be diagnosed in single human blastomeres at the preimplantation stage, obviating the need for pre-natal diagnosis and abortion of affected foetuses.

Animals↗
PubMed1978

Sphingolipidoses.

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Fabry Disease↗
PubMed1979

[Sphingolipidoses].

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Cytoplasmic Granules↗
PubMedDate not supplied

[Sphingolipidoses].

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Gaucher Disease↗
PubMed1985

Lipid storage disease: Part II. Ultrastructural pathology of lipid storage cells in sphingolipidoses.

The ultrastructural pathology of the stored materials in lipid storage cells, particularly of macrophagic nature, in various disorders of sphingolipidosis was investigated. Cell morphology of the lipid storage cells was largely divided into two groups; one had peculiar cell morphology, such as Gaucher cells or globoid cells, and the other showed the appearance of foam cells. These cytological characteristics of the lipid storage cells were closely related to the ultrastructural configuration of lipid storage inclusions. By transmission electron microscopy, the fundamental structures of the stored materials were classified into two types; tubular and lamellar. The tubular structures were formed by accumulation of ceramide or monohexosyl ceramide, whereas the lamellar structures were formed by accumulation of larger sphingolipids than monohexosyl ceramide. These tubular structures were proven to consist of multilayers of lamellae, which are considered fundamentally similar to the lamellar structures. Almost all the lipid storage inclusions are considered to be of lysosomal origin, because of their encirclement by a single unit membrane and localization of acid phosphatase activity, and participation of heterophagic or autophagic mechanisms as for the development of the inclusions may be noted. Besides, the occurrence of secondary lipid storage was pointed out in some disorders of sphingolipidosis.

Fabry Disease↗