Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 108196

Basic findings and current developments in sphingolipidoses.

H Pilz·R Heipertz·D Seidel
View original source ↗Export metadata ↓

Abstract

Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.

Explore related subjects

Fabry DiseaseFemaleGalactosylgalactosylglucosylceramidaseGangliosidesGangliosidosesGaucher DiseaseGenes, RecessiveGlucosylceramidaseHexosaminidasesHumansLeukodystrophy, Globoid CellLeukodystrophy, MetachromaticLipidosesLysosomesMaleNiemann-Pick DiseasesSandhoff DiseaseSphingolipidosesSphingomyelin PhosphodiesteraseSulfatasesTay-Sachs DiseaseJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

H Pilz, R Heipertz, D Seidel. 1979-03-12. Basic findings and current developments in sphingolipidoses.. https://doi.org/10.1007/bf00273194

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed1998

Cardiac transplantation for Fabry's disease.

Fabry's disease is a rare cause of cardiomyopathy. There are no previous reported cases of cardiac transplantation for end-stage cardiomyopathy secondary to Fabry's disease. Recurrence of disease in allografts following renal transplantation has been documented, but the course following heart transplantation is not known. A 53-year-old female presented with congestive heart failure and was found to have end-stage restrictive cardiomyopathy secondary to Fabry's disease, as diagnosed by endomyocardial biopsy. She underwent cardiac transplantation. Eight weeks post-transplantation, electron microscopy of an endomyocardial biopsy specimen showed concentric lamellar inclusions within myocytes similar to inclusions seen in the preoperative biopsy and the explanted heart. However, subsequent biopsies up to one year after heart transplantation did not show any such inclusions. There has been no clinical evidence of Fabry's cardiomyopathy. Heart transplantation is a viable option for end-stage Fabry's cardiomyopathy. However, long term follow-up is required to determine clinical outcome.

Fabry Disease↗
PubMed1998

[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I].

Fetal Fabry disease (defect of alfa galactosidase) and mucopolysaccharidosis I (defect of alfa iduronidase, family with IH phenotype) were diagnosed by biochemistry in two risk gravidities subsequently interrupted according to mother's demand. Fetus with Fabry disease (gestation age 19 weeks) had rudimentary storage in kidney and myenteric plexuses cells, cardiocytes were normal. Biopsy of chorionic villi showed a bit more conspicuous storage in single trophoblastic elements. Much more striking storage was observed in MPS I (gestational age 14-15 weeks) especially in liver (hepatocytes and sinus cells), spleen (sinus endothelial cells and pulp macrophages) and fibroblasts of skin and placenta. Skin peripheral nerves and cerebral cortical gangliocytes did not show any lysosomal storage. Different manifestation of storage in fetal age may reflex the speed of lysosomal storage development in both lysosomal enzymopathies.

Fabry Disease↗