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).

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.)

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.

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.

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.

The first step in pursuing any chronic problem is a "metabolic database." This means a basic blood panel and urinalysis to rule out more biochemically widespread problems (such as liver disease or kidney disease) which could be responsible for the signs.

If you think you might have CD, talk to your doctor. She will use your health history, a physical exam, and several tests to figure out if you have CD. Blood tests: A sample of blood is studied in a lab to find signs of inflammation and anemia (low iron levels). Upper Gastrointestinal (GI) Series with Small Bowel Follow-Through: The patient drinks a chalky liquid that contains barium. Then x-rays are taken. Barium shows up on x-rays.

Your doctor will do blood and urine tests to help find out how well your kidneys are working. These tests can show signs of kidney disease and anemia. (You can get anemia from having damaged kidneys.) You may have other tests to help rule out other problems that could cause your symptoms. Your doctor will ask questions about any past kidney problems, whether you have a family history of kidney disease, and what medicines you take—both prescription and over-the-counter drugs.

The gold standard for diagnosis of coronary artery disease is coronary angiography, also known as cardiac catheterization, which is described below. Although cardiac cath is the gold standard, it is an invasive test and not appropriate for all patients. For this reason, noninvasive stress testing has been developed for the diagnosis of coronary disease.

Several tests can be done to diagnose possible heart disease. These can include checking blood pressure, a chest x-ray and electrocardiogram to detect any abnormalities of the heart, and blood tests, such as cholesterol and triglyceride levels.

The gold standard for diagnosis is the small intestinal biopsy, done during a procedure called endoscopy. The diagnosis is based on finding a series of abnormalities in an intestinal biopsy (increased inflammation and villous atrophy) that return toward normal on a gluten-free diet. As a follow up biopsy is not always necessary or performed, the combination of an abnormal biopsy and improvement of symptoms after gluten is eliminated from the diet is enough to establish the diagnosis.

Physical examination and testing. Blood tests are done to check for anemia, which could indicate bleeding in the intestines. High white blood cell count is a sign of inflammation or infection in the body. Stool samples will also be tested for the presence of blood. Your doctor may do an upper gastrointestinal (GI) to examine the small intestine. A colonoscopy may also be done so your doctor can visually inspect the large intestine.

Glycogen is the form in which you body stores glucose in your liver and muscles. Glycogen is broken down by glucagon to help raise your blood sugar if you experience a low blood sugar reaction.

Alzheimer's disease can only be conclusively diagnosed by examining the brain after death in an autopsy to determine the presence of characteristics plaques and tangles in certain brain areas. However, doctors can make a clinical diagnosis of "possible" or "probable" Alzheimer's disease in a living person. Several tools are used to arrive at this diagnosis. These include: a complete medical history and tests that measure memory, problem solving, attention, counting, and language abilities.

Screening for coeliac disease is by a blood test to detect the presence of antibodies produced by the coeliac in response to gluten in the diet. Diagnosis is determined by a small bowel biopsy (called an endoscopy), which is necessary to check whether the lining of the villi of the small intestine has been damaged. It is imperative that you do not begin a gluten free diet before being tested, as your results will come back negative.

Sometimes it is diagnosed just by the characteristics history and examination. Sometimes an ultra sound or, in older women, a mammogram may be performed. We start using mammograms in women in their mid thirties and up. A breast biopsy is sometimes performed or a needle biopsy.

During a periodontal exam, your gums are checked for bleeding, swelling, and firmness. The teeth are checked for movement and sensitivity. Your bite is assessed. Full-mouth X-rays can help detect breakdown of bone surrounding your teeth. Periodontal probing determines the severity of your disease. A probe is like a tiny ruler that is gently inserted into pockets around teeth. The deeper the pocket, the more severe the disease.

Being diagnosed with a lung disease can be a frightening and overwhelming experience. Many people feel alone and may not know what to do once they have been diagnosed. These suggestions will help give you direction.

Every person has a different way of handling news that a loved one has cancer. Many parents don't want to burden their child or children with worries and fears about their sickness. But even the youngest children can sense when something is wrong. Get some tips about how to tell your children.

Parkinson's disease is usually diagnosed by a neurologist who can evaluate symptoms and their severity. There is no test that can clearly identify the disease. Sometimes people with suspected Parkinson's disease are given anti-Parkinson's drugs to see if they respond. Other tests, such as brain scans, can help doctors decide if a patient has true Parkinson's disease or some other disorder that resembles it.

Diagnosis is usually made by growing bacteria from a sample of spinal fluid, obtained by performing a spinal tap (a needle is inserted into the lower back, where fluid in the spinal canal is readily accessible). Identification of the type of bacteria responsible is important for selection of correct antibiotics. Meningococcal disease is treated with antibiotics. Early treatment is essential to reduce the risk of death to less than 15 percent.