entsyymipuutokset

Ensymyymipuutokset, known in English as enzyme deficiencies, occur when an organism lacks or has insufficient amounts of a specific enzyme. Enzymes are proteins that catalyze biochemical reactions essential for life. When an enzyme is deficient, the reaction it normally facilitates slows down or stops altogether, leading to a buildup of certain substances or a lack of others, which can have serious health consequences.

These deficiencies can be caused by genetic mutations that alter the enzyme's structure or production. Many are inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene, one from each parent, to be affected. However, some can be acquired due to other diseases or environmental factors.

The symptoms of enzyme deficiencies vary widely depending on the specific enzyme affected and the metabolic pathway involved. Some deficiencies are mild and may not cause noticeable symptoms, while others can lead to severe and life-threatening conditions affecting multiple organ systems. Examples include phenylketonuria (PKU), where the body cannot break down the amino acid phenylalanine, and lysosomal storage diseases, where waste products accumulate in cells.

Diagnosis typically involves blood and urine tests to measure enzyme activity or detect accumulating substances. Genetic testing can confirm the underlying mutation. Treatment strategies often focus on managing symptoms, such as dietary restrictions to avoid accumulating substances, enzyme replacement therapy, or gene therapy in some cases. Early diagnosis and intervention are crucial for improving outcomes.