Inherited Metabolism

At this time, there is no way to stop or reverse the course of HD. There is no current treatment to halt the progression, which leads to death after ten to twenty-five years. However, research has identified and located the gene for HD, so it is inheritable, but hopefully this identified gene can help researchers learn more about this horrific disease.

The biochemical basis of this disease is related to the metabolism of fat. It is caused by an abnormality in the ABCD1 gene located on the X chromosome. This prevents the production of ALDP which functions as a

In a case where it is detected prenatally, it can be diagnosed during an ultrasound or by genetic testing, including amniocentesis. However, if it is not detected before a person is born and symptoms are present, the doctor may run tests along with a physical exam and a family medical history. X-rays and bone density tests can be run to help diagnose Osteogenesis Imperfecta. In some cases the doctor may perform a bone biopsy.

Some diagnosing can be made at birth or close to birth because of heart problems, an unusually wide neck or swelling of the hands and the feet.

Catabolism is the breakdown of larger molecules into smaller units to produce energy. In the digestive system, large substances such as molecules of fats and oils are broken down by an Enzyme called lipases into fatty acids, which is used and stored as energy. For example, when an athletic swimmer swims for a long time, they are due to run out of energy because they naturally get exhausted; hence, the body tends to use the stored energy in the muscles (fatty acids) to get the athlete energised again.

In conclusion, it my opinion, that regardless of a test observation any diagnosis should be done as carefully as possible. In the case of a child so

Any child or adult with symptoms of CF or a family history of the condition may be tested. This may be done along with other nongenetic

There is no cure for AAT deficiency. However, treatments can relieve symptoms and improve quality of life. Options include:

You can be tested for it while your mother is pregnant. Or, you can be tested as a carrier of Familial Dysautonmia. It mostly affects Ashkenazi (Eastern European) Jewish People, 1 in 27 of this ethnic group are carrying it. A carrier is a person who does not show the gene, but can potentially pass it on to their children.

The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating

Clinical examination and urine test (excess muccopolysaccharides are excreted in the urine) are the first steps in the diagnosis of an MPS disease. Enzymes assays ( testing a variety of cells or blood in culture for enzymes deficiency ) are also used to provide definitive diagnosis of one of the MPS. Prenatal diagnosis using amniocentesis and choroionic villus sampling can verify if the fetus is affected with the disorder. Genetic counseling can help parents who have a family history of the MPS to determined if they are carrying the mutated gene that causes the disorder.

Genetic testing is available to determine if you are carrying the gene for malignant hyperthermia. There is a 50 percent chance of the patient having the condition if they have an immediate family member with malignant hyperthermia. Children with the condition are also vulnerable to the

Soon after birth, all babies born in the United States will check for a specific disease. This is called newborn screening. All infants look healthy because they can see from just a baby emergency and screening. Finding these conditions soon after birth can prevent severe problems such as brain damage, organ damage and even death. For example, if the baby's body is capable of handling phenylalanine, make a test (PKU) for phenylketonuria. Phenylalanine is a result of brain damage found in some of the many protein-rich foods and sweeteners can be built on the blood and tissues of a baby with PKU. PKU and baby are put in a special case to avoid the diet initially. Babies are tested for hypothyroidism means that the body does not make enough thyroid hormone. Hypothyroidism baby can take hormonal drugs to prevent a slowdown in growth and brain damage that can occur if not treated hypothyroidism. Also, baby with sickle cell disease are at

In this paper I will explain how metabolism works and the thyroid gland function in the human body. First the two different types of metabolism: Anabolism, Catabolism and how the nutrition also affects the production of the thyroid hormone. Secondly, the function of the thyroid hormone, which organs regulate, consequences if the human body begins if it works to work to fast or too slow. Third, the different hormones that the thyroid gland produces and how it regulates the metabolism. Fourth, there is certain nutrients that help the thyroid gland to produce the hormone and also there is another ones that affect the production of the thyroid hormone. Last how the six different types of thyroid problems are found, the symptoms and how they

People who may be especially interested and advised for testing might include couples with a family history of genetic disease, those that might have a birth defect, pregnant women over the age of 34, couples who already have a child with a genetic disorder, and couples concerned about specific disorders that occur more frequently within their ethnic group (March of Dimes 1997).