Defect, enzyme
An abnormality in the protein (enzyme) important in catalyzing a normal biochemical reaction in the body. Disorders result from a deficiency (or functional abnormality) of an enzyme. Archibald Garrod in 1902 was the first to attribute a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme defects such as phenylketonuria (PKU) and galactosemia, an error in the handling (metabolism) of the sugar galactose.

Medical dictionary. 2011.

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  • 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

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