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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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]
Farlex Partner Medical Dictionary © Farlex 2012

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]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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]
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
In conclusion, our data underline the importance of a precise diagnosis in HX, particularly in view of splenectomy because of the increased thrombotic risk, and the need of a molecular confirmation of a suspected RBC enzymopathy.
In erythrocytary enzymopathy such as in glucosesphosphate dehydrogenase (G-6-PD) generally associated with SCD, the hemoglobin can be oxydated into methemoglobin and lose its oxygen affinity (Weil 1987).
Moreover, results of a direct Coombs test were negative, although a routine peripheral blood smear revealed the presence of "bite cells." 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.
As per Banhegyi et al., 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.