enzyme defect

enzyme defect

A structural or functional defect in an enzyme needed to catalyze a normal biochemical reaction in the body. See Enzyme, Inborn error of metabolism.
References in periodicals archive ?
10, 2010 in the advance online edition of Nature Structural and Molecular Biology, suggest the possibility of a treatment to reduce the health problems associated with the enzyme defect.
MSUD is a secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine.
The onset of gout before the age of 30 in men or before menopause in women is atypical, and these patients should be investigated for an associated inherited enzyme defect or renal disease.
Catherine Arkley, chief executive of the foundation, said Chris's problem involved a single enzyme defect.
An enzyme defect that interferes with the way the body breaks down purines causes gout in a small number of people.
An inherited enzyme defect identified in 1993 accounts for only a few percent of the cases.
The dopaminergic system is the best studied link between the enzyme defect and the clinical manifestations of LND," notes Dr.
The major advantage of the FAO flux assay is that it is the only assay that can test the true flux through the FAO pathway, whereas the alternative method using tandem mass spectrometry can accurately verify the exact site of an enzyme defect, making the two approaches complementary.
Marks provided the first direct evidence that a genetically determined enzyme defect in glucose-6-phosphate dehydrogenase (G6PD) predisposed to hemolytic anemia.
Chris, a pupil at The Deanery Primary School in Sutton Coldfield, is one of only 12 children in the UK suffering from Crigler Najjar disease, a single enzyme defect in the liver which causes a build-up of a chemical called bilirubin.
The company continued to conduct its active pre-clinical vaccine vector program involving Mycobacterium tuberculosis, and an exciting program to identify a new expression system for glucocerebrosidase, the enzyme defect in Gaucher's disease.
Depending on the specific enzyme defect and the degree of enzyme deficiency involved, the clinical course can run from relatively mild and eminently treatable to rapidly fatal (6-8).