What are enzyme defect in Inborn error of metabolism?
Some enzymes help to break down large nutrient molecules, such as proteins, fats, and carbohydrates, into smaller molecules. This process occurs during the digestion of foodstuffs in the stomach and intestines of animals. Other enzymes guide the smaller, broken-down molecules through the intestinal wall into the bloodstream. Still other enzymes promote the formation of large, complex molecules from the small, simple ones to produce cellular constituents. If enzyme are missing it could lead to some of the manifestation like delay development,lethargy,hyper aggression,learning disability,speech difficulty etc. therefore newborn genetic screening is important for baby to detect inborn error of metabolism where we could detect genetic disorder or enzyme defect related to metabolism to prevent above mentioned manifestation to prevent fatal outcome.
METABOLISM is the Sum total of all the chemical reactions within the human body constituting the breakdown of nutrients (carbohydrates, proteins, fats) into simpler forms, to be used within the body for energy production, tissue renewal, and other similar vital processes. A number of metabolic enzymes(which help in breaking down of the nutrients) are involved in the individual chemical reactions that constitute the entire metabolic process. In case of enzyme deficiency/absence, the entire chain of the chemical reaction gets disrupted. There is an abnormal increase in the level of substrates (not being converted to products), which can be toxic for the human body. Also, there is a decline in product formation, leading to deficiency for the nutrient, wherein the enzyme deficiency/absence occurs. In-Born Errors of Metabolism(IEM) is a class of genetic disorders that occurs at birth, resulting in a disturbance of the metabolic profile of the individual due to the deficiency of metabolic En
