In this type the enzyme glucose-6-phosphatase is defective in the liver, kidney, and small intestine, where it normally functions. However, the metabolic problem is centered in the liver.
It is an inborn error of metabolism that belongs to lysosomal storage disorders. Every cell in our body contains vesicles called lysosomes those digest the waste products of the cell.
In this glycogen storage disease, the enzyme deficiency causes the body to form glycogen molecules that have an abnormal structure. This abnormal structure also prevents the glycogen from being broken down into free glucose.
In this type, there is not an increased amount of glycogen in the tissues, as in other forms of GSD. Instead, the glycogen that does accumulate has very long outer branches, because there is a genetic deficiency of the branching enzyme.
The phosphorylase enzyme plays a vital role in the breakdown of glycogen into glucose. In the absence of phosphorylase in muscles, glucose can not be released from the glycogen stored in skeletal muscles to create energy. People with Type V GSD experience problems performing and completing most exercises, especially anaerobic exercises. Because they lack the enzyme to metabolize glycogen, which is the main source of energy for anaerobic activity, their body struggles to find other sources of energy to complete a given activity or exercise.
The phosphofructokinase enzyme is needed to facilitate the breakdown of glycogen into energy in muscle. Patients with this type of GSD have a deficient amount of this enzyme in their muscle tissue. With this deficiency, effective glycogen breakdown (glycolysis) during muscle stress cannot be accomplished, resulting in pain, weakness, and cramping in the exercising muscle.
Experiments in female monkeys have for the first time shown that when used in combination, vaginal gels known as microbicides can protect against an HIV-like virus. The research, funded largely by the National Institute of Allergy and Infectious Diseases (NIAID), one of the National Institutes of Health (NIH), suggests that similar combination microbicides could potentially provide a safe, effective and practical way to prevent HIV transmission to women, according to study investigators.
A new study, using a unique detection method, has led scientists to identify several genes whose rearrangements in prostate cancer cells may play a role in the development and progression of the disease. Researchers at the University of Michigan, Ann Arbor, report that two genes, ETV1 and ERG, which previously were implicated as cancer-causing gene rearrangements in Ewing’s sarcoma (a relatively rare bone cancer), are now seen as important cancer-causing genes in prostate cancer. Closer analysis showed how rearrangement of these genes was responsible for their cancer-causing potential. The research appears in the October 28, 2005, issue of Science and was supported by the National Cancer Institute (NCI), part of the National Institutes of Health.
New research shows that idiopathic interstitial pneumonia (IIP), a group of potentially fatal disorders that affects the lungs, may be caused by an interaction between a specific genetic background and cigarette smoking. In a study of 111 families that had at least two relatives with IIP, people who smoked cigarettes were three times more likely than non-smokers to develop the disease. The research was supported by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of Environmental Health Sciences (NIEHS), both institutes within the National Institutes of Health.
In today’s time many children even infants are suffering from Childhood Asthma, and are put on Inhalers & Nebulizers . It is increasing at alarming rate whereas a proper care with appropriate Homoeopathic Treatment can Cure many youngsters and enable them breath normally without the aid of Puffs, Pumps and Nebulizers. Specially in Diwali days it aggravates because of Smoke and Air Pollution caused by Fire Crackers.