Search results for "Sphingolipid"
showing 4 items of 74 documents
A case of combined Farber and Sandhoff disease
1989
We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots. Until the age of 2 years her motor and physical condition deteriorated distinctly, however her mental state remained unchanged. A biopsied skin nodule disclosed lysosomal inclusions within storage cells that were typical of Farber disease (curved tubular structures). However, other inclusions (e.g. zebra bodies) were also found. Biochemical findings included ceramide accumulation in skin nodules and cultured…
Free and sulfoconjugated dehydroepiandrosterone, cyclic adenosine-3′,5′-monophosphate, and free estriol in maternal and cord blood
1976
When free DHEA, its sulfatide, and sulfate were assayed in maternal plasma as well as in umbilical cord arterial and venous plasma, rather high concentrations were found in either fraction from cord arterial plasma, reflecting the fetal contribution not only of free DHEA and DHEA sulfate, but also of the lipophile steroid sulfatide. Since high DHEA levels were associated with elevated c-AMP concentrations, a certain interrelationship of both parameters is indicated. In the course of delivery, a rapid decrease of free estriol in maternal plasma was observed. Higher concentration of free estriol in umbilical venous plasma pointed at its placental biosynthesis from fetal precursors.
Acid Ceramidase Deficiency
2015
Abstract A deficiency of the lysosomal enzyme ceramidase leads to accumulation of the sphingolipid ceramide in several organs such as skin, liver, brain and other tissues, resulting in a broad spectrum of clinical manifestations. The most common form, called Farber lipogranulomatosis, is characterized by subcutaneous skin nodules and a progressive hoarseness, in many cases also the central nervous system is affected. A lethal hydrops fetalis represents the most severe form. A ceramidase deficiency was also found in a few patients in whom neurological symptoms such as spinal muscular atrophy and myoclonus epilepsy dominated the clinical picture. In the ceramidase gene, which has been mapped …
4812 - A0028 Gangliosides in the retina: a comparative inventory with brain and other ocular structures
2016
Purpose: Gangliosides (GG) make an extremely diverse family of glycosphingolipids particularly abundant in the brain and neural tissues. While it is known that alterations in GG metabolism are associated with visual defects, the precise biological roles of these compounds in the retina are still largely unknown. In this context, we performed an exhaustive inventory and thorough characterization of the human eye GG aiming to reveal specificities and common features of the retina compared to other ocular tissues and brain.Methods: Retina, RPE/Choroid, ciliary body, optic nerve and brain samples were collected from deceased human donors (N=7). GG were extracted and analysed by a comprehensive …