Biomaterial Database

Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease. 1969

R Matalon, and A Dorfman, and G Dawson, and C C Sweeley

Cultures of skin fiibroblasts from a patient with Fabry's disease showed an accumulation of the glycolipid, galactosyl-galactosyl-glucosyl ceramide. Such cells also showed metachromasia on staining with toluidine blue and a markedly elevated acid mucopolysaccharide content.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
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
D006025	Glycosaminoglycans	Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine (see ACETYLGLUCOSAMINE) or N-acetylgalactosamine (see ACETYLGALACTOSAMINE).	Glycosaminoglycan,Mucopolysaccharides
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
D000794	Angiokeratoma	A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.	Angiokeratomas
D001168	Arthritis	Acute or chronic inflammation of JOINTS.	Oligoarthritis,Polyarthritis,Arthritides,Oligoarthritides,Polyarthritides
D001706	Biopsy	Removal and pathologic examination of specimens from the living body.	Biopsies
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.