Chemical Origin And Impact Of Glut1 Deficiency Syndrome

An overview of the proposed sequences of the key pathological features of type 2 diabetes is provided by Dr. Jack Leahy from the University of Vermont College Of Medicine. In his article he addresses the need for continued genetic research since little discovery has been made in this area. He also explains the known environmental causes such as sedentary lifestyles and high fat diets that contribute to type 2 diabetes, changes in lifestyle practices would reduce the incidence of this disease but this is not a practical solution. The best solution according to Dr. Leahy lays in understanding the

The ketogenic diet; one of the oldest treatments for epilepsy is based on the creation of ketones in the body. The creation of ketone bodies is accomplished through high fat intake, carbohydrate depletion and a fasting-metabolism; over long periods of time. When the body is in a fasting state, it creates ketones, a by-product of a fat-burning metabolism. It has long been recognized that seizures often lessen or disappear during periods of fasting in some individuals with epilepsy (Richard Senelick, 2014). This fat-burning metabolism is slowly become popular amongst dieters and endurance athletes. Besides the clear loss of body fat there is the increase in brain processes that create extreme amounts of clarity.

Classic Galactosemia, Type 1, is a complex disorder and the exact pathophysiology has is controversial. However, it is most commonly accepted that the main factor is the accumulation of galactose-1-phosphate, gal-1P, which is due to the impairment of galactose-1-phosphate uridylytransferase, GALT. This reaction uses the GALT enzyme as a part of the Leloir pathway which enables the body to process galactose.

This disease has been linked to genetic mutations, as there are about 18 regions on the human genome that have been linked to Diabetes type 1. They may contain several genes that allow for this dysfunction to take place, which are IDDIM1-IDDM18 (Bailey & Molnar, 2013). The most studied is the IDDIM1, which contains the HLA genes that decode immune

Epilepsy is one of the most complex neurological disorders there are. It occurs mostly in children in many different ways, like through genetics or even because of something as simple as a high fever. Most epilepsies are managed with medications whose effects vary not just from person to person, but also by the type of epilepsy. There are many cases of epilepsy that cannot be managed with medication. Just one medication could take at least two years to find the right dosage and often that patient would have to incorporate an accompanying medication to balance the effects of the fist medication, thus resulting in high toxicology. But in 1921 the Mayo Clinic’s Dr. Wilder suggested that the Ketogenic diet, a diet in high fats and low carbohydrates,

Type 2 Diabetes Mellitus (T2DM) is the most common form of diabetes in the U.S., and it is a severe disease with numerous life-threatening consequences. T2DM occurs when insulin, which is a hormone released by the pancreas for sugar metabolism, becomes low or cannot be utilized by cells. In the normal condition, insulin circulates in the bloodstream and enables to convert starch, sugar, and all polysaccharides complex into glucose, which cells use for energy; however, in T2DM, there is continuously too much glucose in the bloodstream. When cells don’t interact appropriately with insulin, blood sugar increases, and this phenomenon is called insulin resistance that leads to many health problems,

Chronic elevated glucose in blood (hyperglycemia) with disturbances metabolism of protein, fat and carbohydrate resulting from disorder in insulin secretion, insulin action, or both. (1) Expected to increase diabetic patients by 2025 to approximately 300 million people in the worldwide (2) In ancient times it was difficult to identify diabetes as the ability of patients to heal weak, the researchers think the diabetes resulting from defect in the bladder and kidneys are the cause of diabetes. (6)

(12). Bertoli S, Cardinali S, Veggiotti P,et al . Evaluation of nutritional status in children with refractory epilepsy. Nutr J, 2006; 5:14.

However, it was only in 1921 in the journal Medical Record that fasting as a treat-

As was previously outlined, the cause of Liddle’s syndrome is from ENaC over presenting in the ASDN due to a mutation to the channel is the cause of Liddle’s syndrome. It has been shown that mutations on the gamma and beta subunits are responsible for the gain of function in the ENaC. No mutation has been observed yet for the alpha subunit. Mutations occur at the level of the gene for the beta and gamma subunit and cause either missense, nonsense or frameshift mutations in the mRNA of the PY motif for ENaC(ref). This results in either a truncated protein or elimination of some amino acids from the PY motif, which interfere with the binding ability of Nedd4 ligase and inhibit Nedd4 ligase binding, respectively. Overall, this either decreases or eliminates the possibility of Nedd4-2 ligases’ ability to tag and degrade the ENaC. With the inability to control ENaC surface expression at the kidney, its reabsorption of sodium will be markedly increased due to

Rates are also higher among mothers with certain health problems, such as diabetes or seizure disorders (taking certain anticonvulsants), and significantly higher among couples in which at least one has SB, and couples who have already had a child with SB.” But, as “The HealthDay News” reporter Robert Preidt noticed: “Serious birth defects of the brain and spine called neural tube defects have fallen 35 percent in the United States since mandatory folic acid fortification of enriched grain products.” Since that moment, 1,300 fewer babies are born annually with neural tube defects. However, the Mayo Clinic Staff point out that doctors and researchers do not know for why SB occurs, they have identified few risk factors: race, some medications, and family history of neural tube defects which are defined early in the paragraph. Also, sex, folate deficiency, diabetes, obesity, and increased body temperature can be considered as risk factors of developing SB. First is sex, girls are effected more often. Second, folate (vitamin B-9) is important to the health development of a baby. The systemic form, found in supplements and fortified foods, is called folic acid. “The Genetics Home Reference” noticed that the gene called MTHFR (methylenetetrahydrofolate reductase) provides instructions for making a protein that is involved in processing the folate, and shortage (deficiency) of this vitamin

MSUD results from a malfunction of the branched-chain alpha-ketoacid dehydrogenase complex (BCKD). This complex produces enzymes necessary for the proper breakdown of common amino acids such as valine, leucine and isoleucine found

Phenylketonuria is an inherited disorder which means it is passed down from the parent’s genome. It is an inborn disorder, meaning it is developed and can be diagnosed at birth. Phenylketonuria is found more often in the Native American and Northern European ethnic groups backgrounds. It is less commonly observed in people from Asian, African, or Hispanic groups. PKU can cause a harmful increase in levels of an amino acid known as phenylalanine in the blood, by interfering with the body’s ability to metabolize it. Individuals with PKU are unable to metabolize the amino acid because they have a deficiency of the enzyme phenylalanine hydroxylase. Too much phenylalanine can cause brain damage along with other very serious complications if not

Many people are familiar with a low carbohydrate diet and the keto diet falls within those parameters, but it has some distinct additions which are considered paramount to its

Glucose – why we need it and why it shouldn’t get too high or too low