In inherited metabolic disorders, a single enzyme is either not produced by the body at all, or is produced in a non-working form. The missing enzyme is like an absentee worker on the assembly line. Depending on that enzyme's job, its absence means toxic chemicals may build up, or an essential product may not be produced.
The code or blueprint to produce an enzyme is usually contained on a pair of genes. Most people with inherited metabolic disorders inherit two defective copies of the gene -- one from each parent. Both parents are "carriers" of the bad gene, meaning they carry one defective copy and one normal copy.
In the parents, the normal gene copy compensates for the bad copy. Their enzyme levels are usually adequate, so they may have no symptoms of a genetic metabolic disorder. However, the child who inherits two defective gene copies cannot produce enough effective enzyme and develops the genetic metabolic disorder. This form of genetic transmission is called autosomal recessive inheritance.
The original cause of most genetic metabolic disorders is a gene mutation that occurred many, many generations ago. The gene mutation is passed along through the generations, ensuring its preservation.
Inheritance of Metabolic disorders refers to whether the condition is inherited from your parents or "runs" in families.
The Signs and symptoms wont be seen in the parents but will be evident in the child. That's why baby genetic screening is important to rule out metabolic disorders.
On a more general note, usually, the defective gene which would eventually cause the metabolic disorder has been present in the past generations. It remains dormant or at times is even seen but it is not very serious and hence goes unattended. But for some reason, it gets manifested in the child now and may be it is very serious, that is when it hampers the growth of the child. If detected and diagnosed early in life, the disorder can be managed well and prevent some fatal regressions in the child.
Scientists think it is valuable to link genetic codes with medical histories for diagnosis and management of genetic disorders.
Genetic link can be defined as a genetic connection. An example of a genetic link is the heredity and traits that a child inherited from his/her parents.
Heredity plays a role in the predisposition to mental disorders. Certain mental disorders, such as schizophrenia and bipolar disorder, have a genetic component that can increase the risk of developing the disorder if there is a family history. However, environmental factors also interact with genetic predispositions to influence the development of mental disorders.
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Disabilities or disorders that are linked to reproduction or sex For more info Google IT!
It is considered that anorexia can sometimes have a genetic link. If a person (particularly a girl) has a diret biological family member, then it is possible that they might have a slightly higher risk of developing anorexia or other eating disorders.
There are "treatments", but since the origin of the disorders are coded into the genes of the individual, there is no feasible way to alter the affected cells. "Gene therapy", which seeks to replace faulty cells with normal or healthy versions, is only now beginning to yield results. Because tampering with genetic material can have unintended or unforeseen consequences, the use of such techniques is strictly controlled and reviewed. (see the excellent related link)
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A bloodline is the pedigree of an animal, or the abstract link between a person and their ancestors.
They use the metabolic water when water is not available. See the link below.
There is no current genetic link at this time.
Walter Fleming's discovery of sickle cell anemia as a hereditary disease in 1910 was important because it helped advance our understanding of genetic disorders. This finding was one of the first to link a specific genetic mutation to a disease, paving the way for further research in genetics and inherited diseases. It also had significant implications for the diagnosis and treatment of sickle cell anemia.