Persistence Hyperinsulinism Case Studies

It is characterized by varying degrees of insulin resistance and insulin deficiency. It is thought that the earliest defect in the pathogenesis, is impaired insulin action or insulin resistance. Resistance to the action of insulin will result in impaired insulin mediated glucose uptake in the periphery (by muscle and fat), incomplete suppression of hepatic glucose output and impaired triglyceride uptake by fat. To overcome insulin resistance, beta islet cell will increase the amount of insulin secreted. Higher circulating insulin levels will overcome the obstruction to the action of insulin. This state of hyperglycemia persist for many years. Abnormal fuel metabolism (hyperglycemia and dyslipidemia) occurs when there is a mismatch between insulin requirement, as dictated by insulin resistance, and insulin supply as dictated by beta cells function. For diabetes mellitus to develop, two deficits are necessary: insulin resistance, and insulin deficiency relative to the

During the year 1889, two researchers, Joseph Von Mering and Oskar Minkowski, had discovered the disease that is known today as diabetes. Diabetes is a disease in which the insulin levels (a hormone produced in unique cells called the islets of Langerhans found in the pancreas) in the bloodstream are irregular and therefore affect the way the body uses sugars, as well as other nutrients. Up until the 1920’s, it was known that being diagnosed with diabetes was a death sentence which usually affected “children and adults under 30.” Those who were diagnosed were usually very hungry and thirsty, which are two of the symptoms associated with diabetes. However, no matter how much they ate, their bodies wouldn’t be able to use the nutrients due

Diabetes mellitus is a long-term chronic condition in which a person that has high blood glucose level either, because of inadequate insulin output or the body cells does not respond properly to insulin, affecting the bodies capacity to extract glucose from the bloodstream and utilise it for energy. Causing improper functioning of the pancreas that secretes insulin. Approximately 1 million Australians have been diagnosed with diabetes; also Australia has the 6th highest incidence and 7th highest prevalence of type 1 diabetes in children from the ages of 0-14 years old. The nature of the 3 main types of diabetes which are Type 1, Type 2 and Gestational include: Type 1 a disorder portrayed by hyperglycaemia (increased blood glucose levels), a breakdown of body fats and proteins that develops ketosis.

FHI is a clinical and genetical disorder which can be inherited in an autosomal dominant(less common) and autosomal recessive patterns of inheritance. In this cases, the pancreatic beta cells over-produce insulin. The condition is characterized by inadequate suppression of insulin secretion in the presence of severe, recurrent, fasting hypoglycemia (Nestorowicz, et al. n.d.). The clinical manifestations range from life-threatening hypoglycemia presenting in the first days of life to only mildly symptomatic hypoglycemia in an adolescent that may be difficult to identify. The response to medical and surgical therapy also varies between affected individuals. Normally, insulin is secreted in response to the amount of glucose in the

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)

but it is believed to be related to insulin resistance or what is sometimes called “in-

Type I diabetes is mainly caused by autoimmune destruction of the pancreatic beta cells, leading to an inability to produce insulin. It has been called juvenile diabetes because the onset is usually in children. Type II diabetes, on the other hand, usually begins in adults. It can be caused by differing degrees of beta cell dysfunction or insulin resistance at the receptor, which is the basis for variance in the treatments given for Type II. A third form of diabetes, being the focus of this paper, is caused by impaired insulin release from the pancreatic beta cells due to potassium channel dysfunction. This is commonly referred to as Neonatal diabetes, because it has a typical onset in the neonatal stage. It can appear later on however, as in some cases it has a juvenile or adult onset. Therefore, it commonly misdiagnosed as Type I diabetes in juvenile cases [3]. Neonatal diabetes can be either transient or permanent, and the mildest form of the disease has onset in adults. The main distinction between neonatal diabetes and Type I is that in Type I, autoimmune destruction of the beta cells causes an inability to produce insulin, whereas in neonatal diabetes (referring to diabetes caused by K+ channel dysfunction), beta cells produce insulin, but are unable to secrete it [3]. Although neonatal diabetes is relatively rare compared to Type I and II, it is still significant for study, as a more complete

Diabetes is a long-term metabolic condition characterized by high blood sugar levels. There are three major categories of the disease, type 1 diabetes occurs when the body produces minimal or no insulin, type 2 diabetes is when the body produces either little insulin or the cells are unable to respond to insulin, gestational diabetes mainly occurs during pregnancy. Non-Insulin Dependent Diabetes Mellitus, which is, type 2 diabetes is the most prevalent. The major complication that is caused by Type 2 diabetes is unremitting hyperglycemia, which leads to numerous changes in the body. There are several alterations in cellular, cardiovascular, and nervous functioning, which contribute to complications such as neuropathies and heart

Also leads to increased hospitalization costs. A large number of asymptomatic neonates are screened for hypoglycemia due to well established relationship between prolonged hypoglycemia and neurological impairment (1). Approximately 10% of these asymptomatic

One of the world’s most rare inherited genetic disorders, Phenylketonuria is an autosomal recessive condition that affects 1 out of every 15,000 people in the U.S. It’s well known for causing brain damage and mental disabilities, and central nervous system damage amongst other irreversible symptoms. Although it can now be tested for and is treatable today, it limits what foods the body can eat without serious harm. Phenylketonuria is a metabolic disorder involved with chemical imbalances of proteins and paves the way for harsh symptoms, developmental disabilities, and an incredibly strict diet.

Type 2 diabetes, a chronic disease that prevents the child’s body producing enough insulin and so the glucose can’t be used as energy.

The Investigating Phenylketonuria in Plasma samples from newborn and observing the Tyrosine levels The traditional phenylketonuria (PKU) is an example of inborn errors in metabolism, this is categorized by the lack of an enzyme called phenylalanine hydroxylase, and this enzyme usually converts phenylalanine to tyrosine, if this conversion doesn’t take place in causes the blood to build up with phenylalanine causing a problem in the urinary tracks. The genetic disorder causes mutilation of brain development, follow-on with mental retardation if a child is not treated. This disorder is an autosomal recessive this means two copies of an abnormal gene must be there for the disease to develop and this is found on the chromosome 12. (A S Lidksy.et

In infancy, this disorder is characterized with weak muscle tone, feeding difficulties, poor growth and delayed development. Some people with P.W.S. with obesity

Diabetes Mellitus is “a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion, insulin action or both. It is a disease which is caused by the insufficient insulin secretion or decrease in the peripheral effects of insulin. It is a serious problem in terms of morbidity and mortality. The hyperglycemia is associated with long term damage, dysfunction and failure of various organs especially the eyes, kidneys, nerves, heart and blood vessels. It’s associated with many complications which includes blindness of the eyes and amputations of the extremities. It is also associated with neuropathy, retinopathy, and cardiovascular diseases which lead to mortalities.

Diabetes is a chronic metabolic disorder that "occurs when the body is unable to produce or respond to insulin, a hormone that allows blood glucose to enter the cells of the body and generate the body's energy" (Ebony, 115). Diabetes is a disease that affects approximately 3% of the world' population. In American alone, 10.3 million people report having diabetes, while an estimated 10 million more individuals may have undiagnosed diabetes (Morwessel, 540). The gene for diabetes is located in the HLA region on chromosome 6, and the most probable organization of the responsible gene is on a 19-kb region of INS-IGF2, which affects HLA-DR4 IDDM susceptibility. Diabetes Mellitus, was first diagnosed in the year 1000 BC, by the