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 phosphorylase enzyme plays a vital role in the breakdown of glycogen into glucose. With a deficiency of the liver phosphorylase enzyme, glycogen cannot be broken down to glucose, and the accumulating glycogen results in an enlarged liver. A total deficiency of this liver enzyme would not likely be compatible with life, thus patients with Type VI GSD actually have only partial deficiency of the enzyme.
Type 0 glycogen storage disease (GSD 0) is caused by a deficiency in glycogen synthase, an enzyme critical for adequate glycogen synthesis. As a result, there is a marked decrease in glycogen stores resulting in fasting hypoglycemia and post-prandial hyperglycemia. Dietary carbohydrates are preferentially converted to lactate.
Keratoacanthoma is a rapidly growing epidermal tumour that resembles squamous cell carcinoma both clinically and histologically.
Screening all postmenopausal women for osteoporosis, or thinning of the bones, using bone densitometry and treatment of women found to have this condition is highly cost effective, regardless of age.
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.
Dermabrasion affects deeper layers of skin than chemical peels, and may be useful for removing disfiguring marks, such as deep acne scars or deep wrinkles. As with chemical peels, it is effective for wrinkles on the upper lip and chin and cannot be used around the eyes. Some experts prefer dermabrasion to lasers for skin surfacing of people with darker skin colors.
The Food and Drug Administration (FDA) announced the approval of Arranon (nelarabine) for marketing in the United States. This is a new drug to treat adults and children with T-cell acute lymphoblastic leukemia (T-ALL) and T-cell lymphoblastic lymphoma (T-LBL), whose disease has not responded to or has relapsed following at least two chemotherapy regimens. Arranon is the first drug to treat this limited population of patients.
Botulinum, the deadly toxin found in uncooked foods, is also a powerful muscle-relaxant, and tiny amounts of a purified form (Botox) are being injected into wrinkles to relax the surrounding muscles. It may benefit forehead and frown lines, crow’s feet, lower eyelids, lines on the side of the nose, and the area between the upper lip and the nose. It is also useful for treating involuntary muscle movements that can occur after a face-lift.