Enzyme defect — A disorder resulting from a deficiency (or functional abnormality) of an enzyme. In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme… … Medical dictionary
Enzyme — A protein (or protein based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions, convertingt a specific set of reactants (called substrates) into specific products. Without … Medical dictionary
Glycogen branching enzyme — protein Name=1,4 alpha glucan branching enzyme caption= width= HGNCid=4180 Symbol=GBE1 AltSymbols= EntrezGene=2632 OMIM=607839 RefSeq=NM 000158 UniProt=Q04446 PDB= ECnumber=2.4.1.18 Chromosome=3 Arm=p Band=12 LocusSupplementaryData=A glycogen… … Wikipedia
Cholinesterase enzyme — protein Name = acetylcholinesterase (Yt blood group) caption = Diagram of Pacific electric ray acetylcholinesterase. From PDB|1EA5. width = 200 HGNCid = 108 Symbol = ACHE AltSymbols = YT EntrezGene = 43 OMIM = 100740 RefSeq = NM 015831 UniProt =… … Wikipedia
branching enzyme defect — branching enzyme defect. См. амилопектиноз. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
branching enzyme defect — branching enzyme defect. = Andersen disease (см.). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
debrancher enzyme defect — debrancher enzyme defect. = Forbes disease (см.). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
debrancher enzyme defect — debrancher enzyme defect. См. гликогеноз III типа. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase — 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 … Medical dictionary
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
