Also found in: Medical.
The following article is from The Great Soviet Encyclopedia (1979). It might be outdated or ideologically biased.



a hereditary disease caused by an inborn error of metabolism that results from an enzyme disorder.

An enzymopathy may be caused by the absence of an enzyme, a decrease in an enzyme’s activity, or the absence or incorrect synthesis of a coenzyme. Each of these abnormalities leads to a specific metabolic disorder and determines the clinical picture of the given enzymopathy. For example, abnormal metabolism of carbohydrates may be manifested by diabetes mellitus or galactosemia, abnormal metabolism of fats, by Tay-Sachs disease or Niemann-Pick disease, and abnormal metabolism of amiho acids, by alkaptonuria or albinism.

There are approximately 500 types of enzymopathies, of which many types are polymorphic and heterogeneous. In heterogeneous enzymopathies, anomalies of the genes that regulate the interaction of enzymes can have identical manifestations, since the enzymes that control different biochemical reactions often produce an identical metabolic result. Most enzymopathies are transmitted by autosomal-recessive inheritance.

Some enzymopathies, such as phenylketonuria, may be detected by proximate analysis during the first few days of life. Early diagnosis often facilitates the normalization of metabolism through diet, through the introduction of a needed substance into the body (replacement therapy), through hormone therapy, or through elimination of the excess metabolites that disrupt metabolism.

The technique of amniocentesis is a promising means of diagnosing enzymopathies. Medicogenetic consultation is an increasingly important means of preventing enzymopathies.


Badalian, L. O., V. A. Tabolin, and Iu. E. Vel’tishchev. Nasled-stvennye bolezni u detei. Moscow, 1971.
Harris, H. Osnovy biokhimicheskoi genetiki cheloveka. Moscow, 1973. (Translated from English.)
Howell, R. R., and C. M. Moore. “Prenatal Diagnosis in the Prevention of Genetic Disease.” Texas Medicine, 1974, vol. 70, no. 5, pp. 77–84.
The Great Soviet Encyclopedia, 3rd Edition (1970-1979). © 2010 The Gale Group, Inc. All rights reserved.
References in periodicals archive ?
Arts syndrome is another disease characterized with developmental delay, intellectual impairment, nystagmus, quadriplegia, and seizure with Xlinked inheritance pattern; however it is an enzymopathy, which causes hypotonia and sensorineural deafness, which are absent in PMD [15].
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked genetic disorder, is a common human enzymopathy affecting over 400 million individuals worldwide [1].
Background: Glucose-6-phosphate dehydrogenase is the commonest enzymopathy in human beings.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency on the other hand is the most common enzymopathy of humans (5).
We now have a comprehensive picture of G6PD biochemical and molecular properties as well as clinical and laboratory features of this enzymopathy. For us, few questions are still unanswered: What are the unknown variants of G6PD in our country besides G6PD Mediterranean variant?
It is the most common human enzymopathy which affects an estimated 400 million people worldwide.1,2 Glucse-6-Phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive inherited disorder, passes from one or both parents and most often occurs in males.
Gllucose-6-phosphate dehydrogenase (G-6-PD) deficiency is the most common red cell enzymopathy, affecting 10% of the world population.