Glycogen storage disease

What is glycogen storage diseases type I (GSD1)? Glycogen Storage disease type I (GSD1) is the most common type of glycogen storage disease detected in most people. An inherited defect in the enzyme glucose – 6 – phosphatase (G6Pase) is the sole cause of this metabolic disease. GSD1 can be categorized even further into two sub categories based on its location and other defects, GSD type Ia and GSD type Ib. Without G6Pase properly functioning, there would be a break in the final step of gluconeogenesis and the body would be unable to supply the blood with glucose. \ Why do individuals with GSD1 have severe…. Fasting hypoglycemia: Blood glucose levels are low in GSD1 patients due to the defect/blockage in the individuals G6Pase used during gluconeogenesis.…

Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal storage disorder that must be passed down by both parents due to the fact that it is a recessive mutation in genes (Type II, 2014). As a lysosomal disorder, Pompe Disease is the inability of lysosomes to breakdown glycogen into glucose and causes the glycogen to build up inside the lysosome (Pompe, 2010). The glycogen build up has specific effects on the muscles…

Gaucher Disease In 1882 a French physician, Philippe Charles Ernest Gaucher, first discovered Gaucher disease in a 32 year old woman; she had a swollen liver and spleen. Gaucher disease is a genetic disease meaning it is an abnormality in an individual’s DNA. Gaucher disease (GD) is described as an inherited disorder known to affect many of the body’s organs, such as the liver, spleen, bones, bone marrow and in severe cases the brain. It is also the most common lysosomal storage disease.…

McArdle syndrome, also known as glycogen storage disease type V (GSD V) is a rare genetic autosomal recessive disease of the muscle tissue or myopathy caused by the body’s inability to produce phosphorylase; “an enzyme that catalyzes the formation of glucose-1-phosphate from glycogen.” (Taber’s Cyclopedic medical Dictionary). Without it, sugar or glycogen stored in the muscles cannot be used to produce energy resulting in fatigue, severe muscle pain and cramping after momentary exercise.…

anabolic reactions while glucagon, catabolic reactions. They are released from the pancreas and controlled in the brain by the pituitary gland. Insulin has many functions, it signals a state of energy abundance, promotes of amino and glucose acid absorption to various tissues from the blood as well as stimulation of anabolic processes such as glycogen, protein and lipid synthesis, which are stored in muscles and fat tissues. Insulin activates synthesis of triglycerides from free fatty acids.…

• The body maintains dynamic constancy, or homeostasis, of the internal environment through the use of antagonistic effectors and negative feedback loops. • The hormones, glucagon and insulin, work to manage blood sugar within normal levels and reduce fluctuations. For instance, when blood sugar levels rise, insulin hormones are released from the pancreas to guide these glucose molecules out of the blood stream and into the body’s muscle, adipose, and liver cells, along with most other cells in…

substances like glucose and oxygen to the muscles throughout aerobic exercise. This is important as during the exercise period ATP is needed by the muscle cells to carry out the contractions. This occurs through respiration. Respiration is crucial as the cells cannot get energy directly from glucose, hence the ATP production. “ATP is synthesised from ADP and an inorganic phosphate using energy from the breakdown of glucose. The energy is stored in this phosphate bond.” (Parsons, 2009, p104) ATP…

Skeletal muscles are made of three different muscle fiber types. All muscle fibers are having varying amounts of mitochondria in them. Mitochondria helps the muscle be able to manufacture ATP for contraction. To differentiate between the three muscles is based on their make up. Slow oxidative (SO) or type one muscle fibers are composed with the most mitochondria to help them be fatigue resistant. SO muscle fibers stain the darkest because the enzyme targeted by the stain is most abundant in this…

They can look at the amount of, and different types of muscle fibers found in thoroughbreds, the muscles ability to adapt to high intensive exercise, the effects from changing the inclination the horse is exercising on, and if age and gender affect the way the muscles react. The thoroughbred horse stems back to a founder stallion that makes up 95% paternal and 9 to 10 founder mares that can make up 72% of the maternal lineage. The characteristics looked for in good race horses are large lung…

influences elite power and strength performance. This conception has been proven correct, because several studies have been conducted where athletes were genotyped and compared to their sport or activity. I also believe that although genetics plays an enormous role in athletic performance, the environment also has its contributions. If an individual is surrounded by family that do not exercise regularly or do not have a healthy diet, and actually carry an R version of the allele, this genotype…