Enzyme deficiencies, a medical anomaly where the body fails to produce sufficient enzymes, can lead to many health conditions. Phenylketonuria, a rare genetic disorder, is one such condition caused by the deficiency of the enzyme phenylalanine hydroxylase. This enzyme is crucial for the metabolism of the amino acid phenylalanine. Its deficiency can lead to intellectual disability, seizures, and behavioral problems.
Another condition, Gaucher's disease, results from the deficiency of the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a specific type of fat, glucocerebroside. When deficient, it leads to the accumulation of this fat in the spleen, liver, and bone marrow, causing anemia, easy bruising, and fatigue.
Another common health issue is the deficiency of the enzyme lactase, which results in lactose intolerance, a common condition characterized by digestive problems like bloating, diarrhea, and abdominal cramps after consuming dairy products.