| 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) |
| acid carboxypeptidase | <enzyme> Carboxypeptidase z (scpz gene product) isolated from absidia zychae Registry number: EC 3.4.16.1 Synonym: carboxypeptidase w, carboxypeptidase yscy, carboxypeptidase cpd-s3, ybr1015 gene product, carboxypeptidase z, scpz gene product (26 Jun 1999) |
| alanine carboxypeptidase | <enzyme> Not for d-ala linkage in peptidoglycan see EC 3.4.17.8 Registry number: EC 3.4.17.6 (26 Jun 1999) |
| angiotensin-related carboxypeptidase | <enzyme> Rat and bovine brain synaptosomal enzyme can hydrolyze angiotensin I to des-leu angiotensin I, but no further Registry number: EC 3.4.- Synonym: angiotensin-specific carboxypeptidase (26 Jun 1999) |
| carboxypeptidase | <enzyme> Enzymes (particularly of pancreas) that remove the C terminal amino acid from a protein or peptide. Carboxypeptidase A, will remove any amino acid, carboxypeptidase B is specific for terminal lysine or arginine. (18 Nov 1997) |
| carboxypeptidase A | A hydrolase that releases C-terminal amino acids, with the exception of C-terminal arginyl, lysyl, and prolyl residues. A zinc-containing exopeptidase. (05 Mar 2000) |
| carboxypeptidase B | A hydrolase that releases C-terminal lysyl or arginyl residues preferentially. A zinc-containing exopeptidase. Synonym: protaminase. (05 Mar 2000) |
| carboxypeptidase C | See: serine carboxypeptidase. (05 Mar 2000) |
| carboxypeptidase G | N-Pteroyl-l-glutamate hydrolase;an enzyme cleaving l-glutamyl residues from pteridine oligoglutamates; used in certain antitumour treatments. Synonym: carboxypeptidase G, conjugase, gamma-glutamate (glutamate gamma-) carboxypeptidase. (05 Mar 2000) |