This means she has two copies of a gene that codes for an enzyme involved in glycogen storage; one copy is healthy, the other is defective. She can pass along either copy to her offspring with equal probability. (If the father is also a carrier, their offspring has a 25% chance of inheriting the disease, and a 50% chance of becoming a carrier.)

One could also use full-length human cDNA that has the gene sequence for the enzyme in question (e.g. glycogen phosphorylase for McArdle's Disease) as a probe for restriction fragment length polymorphism (RFLP).

A glycogen storage disease is a genetic defect that causes a metabolic enzyme to become inactive. It inhibits a cell's ability to either synthesize or metabolize glycogen.

A liver biopsy could determine the activity of one of several enzymes in question. It might be used to make a firm diagnosis in suspected cases of von Gierke's Disease or Pompe's Disease. However, a liver biopsy is an invasive procedure and should only be performed when a definite diagnosis cannot be made by other methods.

Yes. Both parents must have at least one defective copy of the gene, but neither parent must express the disease.

No. Depending on the type of disease, the ethnic background and lifestyle of the patient, some glycogen storage diseases may be so mild that they go unnoticed.

A definite diagnosis can be made by testing a biopsy sample for glycogen concentration, and by assaying the sample for enzyme activity. Distinguishing symptoms of glycogen storage diseases are type-specific. See the exposition on the types of glycogen storage disease.

Symptoms vary among the types of glycogen storage diseases, but common symptoms include low blood sugar, enlarged liver, retarded growth, and abnormal blood biochemistry.

There are no cures for any of the glycogen storage diseases. The less severe diseases can be treated with dietary restrictions, usually high-protein, low-carbohydrate diets. Palliative care may be the only option in more severe cases.

The liver is the body's primary repository of glycogen, so most glycogen storage diseases have a direct adverse effect of the liver. These diseases also affect muscle tissue, which must comply with sudden demands for energy.

Hepatitis B carrier" is a term that is sometimes used to indicate people who have chronic (long-term) infection with HBV. Persons with chronic infection can infect others and are at increased risk of serious liver disease including cirrhosis and liver cancer.

There are a few very rare cases where Alzheimer's disease does run in families. In these cases there is a direct link between an inherited mutation in one gene and the onset of the disease. These tend to be cases of 'early onset' Alzheimer's disease, which affects those under the age of 65. In these cases, the probability that close family members (brothers, sisters and children) will develop Alzheimer's disease is one in two.

It works by playing a recorded narration, explaining what's happening on screen - during gaps in the dialogue - through personal headphones. The normal film soundtrack comes through the cinemas surround sound speakers in the usual way, so Audio description Most of our screens have either an infra-red or hearing loop system. Please click here to check the facilities at your local ODEON or ABC.

NO! OptiGen test results are meant to be used in a responsible breeding program. This does not mean that carrier or affected dogs should never be bred. It does mean that carrier and affected dogs with other desirable traits can be bred, but only to a certified, genetically “Normal/Clear" dog in order to prevent the genetic disease. We can't make specific recommendations about how people should handle their dogs.

It means that the disease is caused by a malfunctioning of the immune system of the body - the very system which also protects us from such unpleasant things as bacteria and cancer cells. The immune system works by producing antibodies (also known as immunoglobulins or lymphocytes) which attack and destroy many bad elements in the body, such as virus, bacteria, etc.. The problem is that sometimes this good defense system gets confused and starts attacking good cells.

Once a brain tumor biopsy is examined by a pathologist, the tumor is categorized, or graded, based on its cell structure and rate of growth. There are different grading systems, but one that is commonly used has four grades. Grade I tumors are slow growing, with cells that are near-normal in appearance and are not malignant. Tumors with cells that are slightly abnormal are classified as Grade II. Grade III tumors grow quickly, contain abnormal cells, and spread to surrounding tissue.

In general a carrier neutral facility is a data center in which the network connection needs are served by several carriers at the same location, this competition between carriers leads to better bandwidth rates. A truly carrier neutral facility will not resell bandwidth for any of the carriers that provide it's Internet connections.

States collect taxes on the motor fuel used within their borders to build and maintain the roads and highways that link their communities to each other and the rest of the nation. As an interstate motor carrier traveling in Kansas, you pay your share of these taxes according to the provisions of the International Fuel Tax Agreement (IFTA).

The stage of the cancer is how the medical community designates the extent of a cancer in the body. Staging is usually based on the size of the tumor, whether lymph nodes contain cancer, and whether the cancer has spread from the original site to other parts of the body. Knowing the stage helps the doctor form a treatment plan.

Mother-to-mother support takes place one-on-one or in groups, informally or formally, anytime, anywhere: in the market place, at the bus stop, at church meetings, in a community hall, at maternity clinics-wherever pregnant or breastfeeding mothers are found. Mother-to-mother support occurs in a variety of settings including, but not limited to, the following: