| inborn lysosomal disease | Inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler's syndrome or a lipopolysaccharide as in Gaucher's disease. (05 Mar 2000) |
|---|---|
| UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase | <enzyme> Fibroblasts from patients with i-cell (mucolipidosis II) and pseudo-hurler polydystrophy (mucolipidosis III) are deficient in above enzyme; for n-acetylglucosamine transferred to dolichyl phosphate see EC 2.7.8.15 Registry number: EC 2.7.8.17 Synonym: udpgnac gp gnac phosphotransferase, udpgnac phosphotransferase, uridine 5'-diphosphate-n-acetylglucosamine glycoprotein n-acetylglucosaminylphosphotransferase, n-acetylglucosamine-1-phosphotransferase, n-agapt, udp-n-acetylglucosamine-lysosomal glycoprotein n-acetylglucosaminylphosphotransferase, udp-acetylglucosamine-glycoprotein n-acetylglucosamine-1-phosphotransferase (26 Jun 1999) |
| UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase | <enzyme> An enzyme that participates in the posttranslational modification of a number of lysosomal proteins; a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy. (05 Mar 2000) |
| lysosomal disease | A disease due to inadequate functioning of a lysosomal enzyme; most such disease's are associated with a storage disease. (05 Mar 2000) |
| lysosomal diseases | Diseases (also called storage diseases) in which a deficiency of a particular lysosomal enzyme leads to accumulation of the undigested substrate for that enzyme within cells. Not immediately fatal, but within a few years lead to serious neurological and skeletal disorders and eventually to death. See: the following conditions: Hurler sundrome, Hunter syndrome, San Fillipo, Gaucher's disease, Niemann-Pick, Pompe's disease, Tay Sachs disease. (18 Nov 1997) |
| lysosomal enzyme | <biochemistry> A range of degradative enzymes, most of which operate best at acid pH. The best known marker enzymes are acid phosphatase and glucuronidase, but many others are known. (18 Nov 1997) |
| lysosomal storage diseases | Inborn errors of metabolism characterised by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolised substrates. (12 Dec 1998) |
| adamantine membrane | The primary enamel cuticle, consisting of two extremely thin layers (the inner one clear and structureless, the outer one cellular), covering the entire crown of newly erupted teeth and subsequently abraded by mastication; it is evident microscopically as an amorphous material between the attachment epithelium and the tooth. Synonym: cuticula dentis, adamantine membrane, dental cuticle, membrana adamantina, Nasmyth's cuticle, Nasmyth's membrane, skin of teeth. (05 Mar 2000) |
| allantoid membrane | An embryonic diverticulum of the hindgut of reptiles, birds, and mammals; in man its blood vessels give rise to those of the umbilical cord. (12 Dec 1998) |
| alveolocapillary membrane | The pulmonary diffusion barrier. (05 Mar 2000) |
| alveolodental membrane | <anatomy> Fibrous connective tissue surrounding the root of a tooth that separates it from and attaches it to the alveolar bone. (12 Dec 1998) |
| anal membrane | The dorsal portion of the embryonic cloacal membrane after its division by the urorectal septum. Anterior atlanto-occipital membrane, the fibrous layer that extends from the anterior arch of the atlas to the anterior margin of the foramen magnum. Synonym: membrana atlanto-occipitalis anterior. (05 Mar 2000) |
| anisotropic membrane | This type of synthetic membrane has an asymmetric pore structure: a thinfilm with tight pores backed by a thicker film with wider pores. Thistype of membrane is used for ultrafiltration andreverse osmosis, the porous side faces the feed stream and the tight-pored side faces the product stream. (09 Oct 1997) |
| anterior recess of tympanic membrane | A slitlike space on the tympanic wall between the anterior malleolar fold and the tympanic membrane. Synonym: recessus membranae tympani anterior, Troltsch's pockets, Troltsch's recesses. (05 Mar 2000) |
| anti-basement membrane antibody | Autoantibodies to renal glomerular basement membrane antigens. (05 Mar 2000) |