Krabbe Disease Essay

According to Mark Sisson (2009), longer-term ketosis can result from fasting or staying on a low-carbohydrate diet, and ketosis that’s deliberately induced serves as a medical intervention for epilepsy. In glycolysis, higher levels of insulin block release of fat from adipose tissues and promote storage of body fat, while the body is in ketosis, fat reserves are continually released and consumed as energy (Sisson, 2009, p.47). This is why ketosis is referred to as

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

Many people affected by Klinefelter syndrome are at high risk of many different health issues, but if these risks can be reduced if signs are caught and treated early. High risk autoimmune disorders, which are disorders in which the immune cells attack the body, include rheumatoid arthritis, hypothyroidisms, lupus, and type 1 diabetes. High risk venous diseases include varicose veins, deep vein thrombosis, and pulmonary embolisms. Since affected males have such a high risk of these venous diseases, they should pay close attention to their weight, follow an adequate diet, avoid smoking, and exercise regularly. Tooth decay is a problem with Klinefelter-affected males since they usually have taurodontism, which is when teeth have shorter roots,

Diabetes is a metabolism disorder marked by high levels of blood glucose, thus resulting in problems with the decreasing amount of

Type 1 diabetes is a life-long autoimmune disease that is generally diagnosed during childhood (Jdrf.org.au, 2014). Type 1 diabetes is a result of autoaggressive T cells that infiltrate the pancreas and destroy insulin-producing β-cells (Betacellmetabolism.org, 2014). As a result the pancreas stops making insulin, and without insulin the body is unable to convert glucose into energy (Diabetesaustralia.com.au, 2014). Consequently, individuals with type 1 diabetes are at risk of a condition known as diabetic ketoacidosis (Diabetesaustralia.com.au, 2014). To counteract the lack of insulin, the body begins to burn fat and muscle as a substitute (Diabetesaustralia.com.au, 2014). This process results in the production of fatty acids called ketones, which are released by the liver to restore energy levels within the body (Drugs.com, 2014). If ketones accumulate in the bloodstream it causes a chemical imbalance (metabolic acidosis) (Chealth.canoe.ca,

Every year, approximately 3000 babies in America are born with Klinefelter Syndrome. Klinefelter syndrome, a genetic disorder known as XXY, is the most common sex chromosome disorder. Klinefelter occurs when the presence of at least one extra X chromosome is in each of the cells. Because chromosomes, contains all the genes and DNA, are building blocks of humans bodies, they are extremely crucial in determining the structure and traits of each individuals. Besides the physical changes that Klinefelter patients experience, the mentally impact they have to deal with daily is equally challenging.Klinefelter Syndrome causes many complex changes in the humans’ genes, severe effects as well as complications not only on the patients' physical bodies, but also on their mental health through dt age groups ; however, due to many advances in the medical fields, doctors are now able to use different effective methods to treat those who have this disease.

Diabetes is a chronic, systemic disturbance in the metabolism of blood glucose; hence blood levels of glucose are abnormally high. This is either due to the body’s inability

This current news article talks about how poverty is one of the main reasons for a mysterious disease that citizens from Africa have been reporting for nearly a century. This disease called “Konzo” causes permanent paralysis on whoever consumes a crop named cassava. Hans Rosling, an epidemiologist and pop-star statistician, who died of pancreatic cancer earlier this month was the first person who found the cause Konzo disease back in 1990. However, he also argues that a secondary reason for this disease is the lifestyle and social class of many members from communities around Africa.

Klinefelter syndrome is a common genetic condition affecting men that causes various complications to the male body and brain. Caused by a variation during meiosis, this then grows to a large complication through a patient’s life. The symptoms of this disorder are varied and hard to diagnose, leading to many cases left undiagnosed. Klinefelter syndrome is a genetic disorder caused by an additional x chromosome in men, affecting their sexual development and leading to learning disabilities.

The cilia organelles are found in eukaryotic cells. Cilia are made up of microtubule-based cytoskeleton called the axoneme and multiple proteins. The function of the cilia is to keep passageways clear of any mucus and foreign particles. 38

After karyotyping through amniocentesis, our team of obstetricians and cytogeneticists have identified a non-disjunction. This was done through taking a sample of amniotic fluid containing fetal skin cells and placing it in a laboratory dish with chemicals and hormones to allow the cells to divide rapidly. After a week, we applied colcemid, a drug that stops mitosis at the metaphase stage. Various other chemicals were then applied to swell the cells at the metaphase stage of mitosis and the cell was placed in a microscope slide to dry. Gimesya dye was then applied to identify the different chromosomes in the cell and a picture of the stained chromosomes was taken. The chromosomes were arranged by size, which were then analyzed.

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Children with Klinefelter syndrome may have learning disabilities and delayed speech and languaage development. They tend to be quiet sensitive and unassertive but personality characteristics vary among affected individuals. Klinefelter syndrome is found in about 1 out of every 500-1000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased

Gaucher’s Disease is an inherited disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. It is the most common of the fourteen known lipid storage disorders which includes Tay-Sachs Disease, Fabry’s Disease, and Niemann-Pick Disease. There are three types of Gaucher’s Disease – Type I, II, and III. All three are characterized by the presence of Gaucher (lipid-laden) cells in the bone marrow and other organs such as the spleen and liver.

The disorders caused by lipid metabolism enzyme deficiency is due to the metabolite accumulation in the cell and parts of the bodies. The major diseases are Gaucher’s, Fabry’s, Tay-Sachs and Niemann-Pick disease. Gaucher’s occurs due to the accumulation of glucocerebrosidase leading to neurological phenotype in some cases and enlarged liver and spleen and bone abnormalities in other cases. Tay- Sachs involves the buildup of gangliosides in tissues, which leads to intellectual disabilities, dementia, paralysis and blindness in different cases. Neimann-Pick involves the buildup of sphingomyelin, leading to neurological issues. Fabry’s involves accumulation of glycolipids in tissues, leading to poor vision, kidney failure or heart failure,

According to World Health Organization, the term “diabetes mellitus” (DM) describes a metabolic disorder of multiple aetiology characterized by chronic hyperglycemia with disturbances of carbohydrate, fat and protein metabolisms due to defects in insulin secretion and/or activity.82