enzyme: Enzyme Deficiency

A variety of metabolic diseases are now known to be caused by deficiencies or malfunctions of enzymes. Albinism, for example, is often caused by the absence of tyrosinase, an enzyme essential for the production of cellular pigments. The hereditary lack of phenylalanine hydroxylase results in the disease phenylketonuria (PKU) which, if untreated, leads to severe mental retardation in children.

Sections in this article:

• Introduction
• Enzyme Deficiency
• Identification and Classification
• Enzymatic Action
• Bibliography

The Columbia Electronic Encyclopedia, 6th ed. Copyright © 2024, Columbia University Press. All rights reserved.

See more Encyclopedia articles on: Biochemistry