Mention any two metabolic disorder which can be diagnosed by an analysis of urine
Answers
Mention any two metabolic disorder which can be diagnosed by an analysis of urine
Metabolic disease, any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular level. Thousands of enzymes participating in numerous interdependent metabolic pathways carry out this process. Metabolic diseases affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of proteins (amino acids), carbohydrates (sugars and starches), or lipids (fatty acids).
Metabolic diseases are typically hereditary, yet most persons affected by them may appear healthy for days, months, or even years. The onset of symptoms usually occurs when the body’s metabolism comes under stress—for example, after prolonged fasting or during a febrile illness. For some metabolic disorders, it is possible to obtain prenatal diagnostic screening. Such analysis usually is offered to families who have previously had a child with a metabolic disease or who are in a defined ethnic group. For example, testing for Tay-Sachs disease is relatively common in the Ashkenazi Jewish population. Countries that perform screening for metabolic diseases at birth typically test for up to 10 different conditions. Tandem mass-spectrometry is a new technology that allows for the detection of multiple abnormal metabolites almost simultaneously, making it possible to add approximately 30 disorders to the list of conditions for which newborns may be tested. If an infant is known to have a metabolic disorder soon after birth, appropriate therapy can be started early, which may result in a better prognosis. Some metabolic disorders respond very well if treatment is introduced at an early age. However, others have no effective therapy and cause severe problems, despite early diagnosis. In the future, gene therapy may prove successful in the treatment of some of these diseases.
Metabolic diseases are quite rare individually, but they are relatively common when considered as a group. Specific metabolic disorders have incidences ranging from approximately 1 in 500 (or even higher in isolated populations) to fewer than 1 in 1,000,000. As a group, it has been estimated that metabolic disorders affect approximately 1 in 1,000 individuals.
Metabolic disorder
Explanation:
- There are two metabolic disorder which can be diagnosed by an analysis of urine are glycusoria and ketonuria.
- Acetone is one of ketone bodies formed as an alternative fuel in patients of uncontrolled diabetes mellitus (specifically in type 1). Ketone bodies are also formed in prolong starvation, renal glycosuria, glycogen storage disease, etc.
- In these diseases including diabetes mellitus, excessive formation of ketone bodies leads to ketonemia, which eventually results in ketonuria, i.e. appearance of ketones in urine.