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 ?
This enzyme defect or underactivity is easier to correct clinically.
The specific enzyme defect is confirmed by measurement of the enzyme activity in cultured skin fibroblasts and/or identification of two disease causing mutations by sequence analysis of AGPS or GNPAT.
This enzyme defect may lead to thrombosis by different mechanisms without resulting in hyperhomocysteinemia According to our opinion, our case at least shows that heterozygote MTHFR A1298C mutation will not be innocent as expected and that the mutation may result in development of thrombosis especially if there is a condition which creates a predisposition to thrombosis such as pregnancy.
From these results, they concluded that the severe liver and kidney damage found in HRT was due to the accumulation of these tyrosine metabolites, and that the primary enzyme defect in HRT was decreased activity of FAH.
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.
The protective effect extends to addicted smokers: Those with the enzyme defect require fewer cigarettes to maintain nicotine levels in the blood and brain, said Dr.
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.