Enzyme deficiencies can cause a wide range of diseases, often referred to as inborn errors of metabolism. These diseases occur because a missing or malfunctioning enzyme disrupts a specific biochemical pathway, leading to a buildup of toxic substances or a deficiency of essential products.
Examples of Diseases Caused by Enzyme Deficiency
Here are some examples of diseases caused by enzyme deficiency:
- Hurler Syndrome: This is a type of mucopolysaccharidosis (MPS I) caused by a deficiency of the alpha-L-iduronidase enzyme. This leads to the accumulation of glycosaminoglycans in the body, resulting in abnormal bone structure and developmental delays.
- Niemann-Pick Disease: Specifically types A and B are caused by a deficiency in the enzyme sphingomyelinase. This leads to a buildup of sphingomyelin, a fatty substance, in various organs, including the liver, spleen, and brain. Symptoms in babies can include liver enlargement, difficulty feeding, and nerve damage.
These are just two examples; many other enzyme deficiencies can lead to different inherited metabolic disorders. The specific symptoms and severity of these conditions vary depending on the affected enzyme and the extent of the deficiency. Early diagnosis and management are crucial to improving outcomes for individuals with these diseases.
