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What is a genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase is missing is known as?
A genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase is missing is known as Phenylketonuria (PKU). This leads to a buildup of phenylalanine in the body, which can be toxic to the brain if not managed properly through a restricted diet low in phenylalanine.
Turners syndrome is what type of disorder?
Turner syndrome is a genetic disorder caused by a missing or incomplete X chromosome in females. It is characterized by specific physical features and can lead to health issues such as short stature and infertility.
What is Prader Willis Syndrome?
A genetic disorder resulted in seven missing or unexpressed genes on chromosome 15
What disorder is the failure or the blood to clot?
The disorder characterized by the failure of blood to clot is known as hemophilia. It is a genetic condition that results from a deficiency in certain clotting factors, leading to prolonged bleeding after injuries or surgeries. Individuals with hemophilia may experience spontaneous bleeding episodes, particularly in joints and muscles. Treatment often involves the replacement of the missing clotting factors to help manage bleeding episodes.
The genetic disorder in which clotting factors are missing primarily affects males?
That is hemophilia. It primarily affects males because females with hemophilia do not survive past menarche. The will bleed to death with their first menstruation.
What is Atchison disease?
Atchison disease is a rare genetic disorder. A person with Atchison disease will usually have smaller limbs such as arms because of a bone missing in that limb. They have a hard time with mobility with the affected limbs.
Galactosemia is the name of a metabolic disorder In this disorder an enzyme is missing that is needed to?
...that is needed to break down galactose.
What is a genetic disorder that cannot be detected by karyotyping?
Karyotyping looks at the complete set of chromosomes. It can detect large-scale abnormalities, such as missing/extra chromosomes or whether large pieces of chromosomes have been rearranged. It cannot detect any of the many, many genetic disorders which are caused by a single gene, several genes or gene interactions. Examples of these would be cystic fibrosis, sickle-cell disease and dwarfism.
What major body system are tapeworms missing?
immune system, digestive, exocrine, ect.
Which hemophilia disorder is genetic?
i believe all types of haemophilia are genetic although i am not sure. but i do know that CLASSIC HAEMOPHILIA is a genetic disorder Haemophilia A and B are both genetic. Haemophilia A (which is the most common) occurs when your blood lacks a clotting agent called factor 8. Haemophilia B occurs when you lack factor 9 in your blood. There is also acquired Haemophilia, this occurs when the immune system starts attacking clotting agents within the blood, this usually occurs in elderly people. Both forms of genetic haemophilia mostly occur in males, it rarely occurs in females. Unfortunately there is no cure but it is quite easily controlled with injections of the missing clotting agent.
Why might parents decide to have genetic testing?
Parents might decide to have genetic testing to determine if either or both of them carry certain genetic traits that could be passed on to their offspring. Some genetic traits will lead to severe birth defects or problematic diseases that could severely impact the quality of their children's lives. If they are indeed carriers of certain traits, they may choose to avoid having children or choose adoption as an alternative. In this way, they can eliminate their particular genetic line and avoid passing the trait on to the next generation.
How can the genetic disorder known as hemophilia be?
Hemophilia is a genetic disorder that impairs the body's ability to make blood clots, leading to prolonged bleeding. It is primarily caused by mutations in the genes responsible for clotting factors, usually inherited in an X-linked recessive pattern. Treatment often involves replacement therapy, where missing clotting factors are administered, along with preventive measures to avoid injuries. Advances in gene therapy also show promise for more permanent solutions in the future.
