Biomaterial Database

Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease). 1967

A I Rae, and J C Lee, and J Hopper

A case of glycolipid lipoidosis (Fabry's disease) in a 27-year-old man is recorded. The case is unusual in that despite extensive disease evidenced by widespread skin lesions, ocular abnormalities, and proteinuria, renal function was only minimally impaired. Electron microscope studies of kidney and skin showed that most cells contained the characteristic lipid described in this condition.

UI	MeSH Term	Description	Entries
D007668	Kidney	Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.	Kidneys
D007677	Kidney Function Tests	Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine.	Function Test, Kidney,Function Tests, Kidney,Kidney Function Test,Test, Kidney Function,Tests, Kidney Function
D008064	Lipidoses	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.	Lipidosis,Lipoidosis
D008297	Male		Males
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D011507	Proteinuria	The presence of proteins in the urine, an indicator of KIDNEY DISEASES.	Proteinurias
D005132	Eye Manifestations	Ocular disorders attendant upon non-ocular disease or injury.	Eye Manifestation,Manifestation, Eye,Manifestations, Eye
D006017	Glycolipids	Any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol (see GLYCERIDES), a sphingoid, a ceramide (CERAMIDES) (N-acylsphingoid) or a prenyl phosphate. (From IUPAC's webpage)	Glycolipid
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults