enzymopathy


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enzymopathy

 [en″zi-mop´ah-the]
an inborn error of metabolism consisting of defective or absent enzymes, as in glycogenosis or mucopolysaccharidosis.

en·zy·mop·a·thy

(en'zi-mop'ă-thē),
Any disturbance of enzyme function, including genetic deficiency or defect in specific enzymes.
[enzyme + G. pathos, disease]

enzymopathy

/en·zy·mop·a·thy/ (en″zi-mop´ah-the) an inborn error of metabolism consisting of defective or absent enzymes, as in the glycogenoses or the mucopolysaccharidoses.

en·zy·mop·a·thy

(en'zi-mop'ă-thē)
Any disturbance of enzyme function, including genetic deficiency or defect in specific enzymes.
[enzyme + G. pathos, disease]

en·zy·mop·a·thy

(en'zi-mop'ă-thē)
Any disturbance of enzyme function, including genetic deficiency or defect in specific enzymes.
[enzyme + G. pathos, disease]

enzymopathy

an inborn error of metabolism consisting of defective or absent enzymes, as in the glycogenoses or the mucopolysaccharidoses.
References in periodicals archive ?
An enzymopathy with a drug-induced acute episode of hemolytic anemia was suspected.
In this patient, the presence of bite cells together with laboratory findings indicated that hemolytic anemia was caused by an abnormal erythrocyte response to oxidative-stress and suggested an underlying enzymopathy.
the fact that the mutation in the gulonolactone oxidase gene did not remain an enzymopathy affecting only a minority of the population but spreading widely and becoming exclusive, should mean that this change was advantageous.
G6PD deficiency is the commonest RBC enzymopathy, affecting over 400 million people globally.
G6PD deficiency is the commonest red cell enzymopathy seen in 200 million people across the world.
G6PDH deficiency is the most common X-chromosome-linked enzymopathy in human beings.
The deficiency of G6PD has been the prototype within the hemolytic anemias due to an enzymopathy as a primary abnormality of the erythrocyte.