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.

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 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.

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.)

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.

There is great variability in the clinical features of these different diseases. Symptoms can begin before birth (e.g. fetal hydrops) or can become obvious in the 90th decade (e.g. Gaucher disease).

A malfunction in the immune system is certainly a part of Crohn's disease. This may be an inability to "turn off" the immune system after it "turns on" for an appropriate reason. Or, the immune system may "turn on" for the wrong reason. Immunosuppressive medications used to keep individuals from rejecting transplanted organs have been shown to be effective in treating Crohn's disease. These factors have led many researchers to characterize Crohn's disease as autoimmune.

Heartworm disease is a serious disease in cats especially in males, and outdoor cats. It is diagnosed in both indoor and indoor-outdoor cats. It is suggested that the reason for finding heartworm positive cats is that cat's nature may swallow different mosquitos or any thing that flies which may be the vector. The clinical signs and diagnosis is different from that in dogs.

Bowen's disease is a precancerous lesion, the malignant cells being restricted to the top skin layer. It appears as a red, scaly or crusted lesion, and may be located anywhere on the skin, including non-sun-exposed skin surfaces.

Legionnaire's disease is a form of pneumonia caused by a bacterium, Legionella pneumophilia. It was first discovered following an outbreak at an American Legion convention in a Philadelphia hotel in 1976. However, after the organism was isolated, some earlier pneumonia outbreaks were investigated and it was verified that earlier cases had occurred.

Between 80 percent and 90 percent of patients get better on their own in about a week. The other 10 percent to 20 percent get worse, with many ending up in intensive care and requiring mechanical ventilators to help them breathe. About 6 percent die.

Canavan disease is a rare and devastating fatal childhood neurodegenerative disorder affecting the formation of myelin, the white matter of the brain. Canavan disease is a progressive leukodystrophy.

Alzheimer's disease is a progressive, neurological disorder characterized by a decline in cognitive function that results in dementia (impaired memory, thinking, and reasoning). Alzheimer's disease is the most common cause of memory loss (dementia), affecting approximately 4 million people in the United States. Unless a cure is found the number of persons affected in the US alone could reach 14 million by the year 2050.

Lyme disease, also known as Lyme borreliosis, is an infectious disease caused by the bacterium Borrelia burgdorferi. The disease is classified by the World Health Organisation as an infectious or parasitic disease. Borrelia burgdorferi belongs to the bacterial genus ‘Borrelia’. These in turn are members of a larger family of bacteria called Spirochaetes.

Our trained applicator will notify you if your lawn shows signs of disease. He'll also advise you on the best treatment. Because lawn diseases are unpredictable and treatments are so variable, there is no guarantee of results. Application of lawn