Enzyme defect

An enzyme defect ( compound from Greek ένζυμο and Latin defectus ) occurs when the catalytic function of an enzyme in the biological metabolism is excessive, reduced or absent. An enzyme defect can be caused by changes or an error in the enzyme structure or by the reduced or excessive supply of the enzyme in the organic metabolism (strictly speaking, however, this is an enzyme deficiency and not a structural defect).

If clinical symptoms or complaints result from this, one speaks of an enzymopathy ( Greek ενζυμοπάθια , ensimopáthia , "the enzyme disease"), and idiosyncrasy , more serious diseases and developmental delays (such as phenylketonuria diagnosed too late ) can develop . Many unwanted, early especially miscarriages are as intrauterine fruit of death to critical enzyme defects with correspondingly serious metabolic disorders of the developing fetus returned.

An enzyme defect is often triggered by a genetic defect . An example of an acquired enzyme deficiency is exocrine pancreatic insufficiency , in which not enough digestive enzymes are produced.

Enzymes are formed in the organism itself ( biosynthesis ).

See also

• Polymorphism
• Metabolic disorder

literature

• Jeremy M. Berg, John L. Tymoczko, Lubert Stryer : Biochemistry. 6 edition, Spektrum Akademischer Verlag, Heidelberg 2007. ISBN 978-3-8274-1800-5 .
• Donald Voet, Judith G. Voet: Biochemistry. 3rd edition, John Wiley & Sons, New York 2004. ISBN 0-471-19350-X .
• Bruce Alberts , Alexander Johnson, Peter Walter, Julian Lewis, Martin Raff, Keith Roberts: Molecular Biology of the Cell , 5th Edition, Taylor & Francis 2007, ISBN 978-0815341062 .

Individual evidence

1. ↑ Sabine Bender: Enzymes: The spark plugs of the metabolism. In: The PTA , February 1, 2014.