Maple Syrup Urine Disease?

Material and Methods: Sera samples (15) of patients with MS disease were collected based on

An increased MVC is a sign of a macrocytic anemia and is typically caused by folate and B12 deficiency, liver disease, hemolytic anemias, hypothyroidism, and alcoholism (Medscape, 2015). The risk factors for this type of anemia are the lack of meat and dairy products in one?s diet, intestinal disease, lack of intrinsic factor (IF), medications such as antacids or particular diabetes type II meds, and having an endocrine-related autoimmune disorder (Mayo Clinic, 2014). Her physical exam is negative, her asthma is well controlled, and she had no other complaints. Therefore, according to her physical exam, she appears to be a healthy young female. However, her lab values of Hemoglobin 10, Hematocrit 30.1, and an increased MCV are indicative of B-12 deficiency anemia. According to Buttaro, Trybulski, Polgar Bailey, & Sandberg-Cook (2013), mild cases of this type of anemia do not produce many symptoms, therefore, the complete blood count (CBC) usually verifies the diagnosis. The fact that she is vegetarian puts her at an increased risk for B12 deficiency, due to the lack of meat in her diet. Foods that contain B12 are only attained from animals such as meat, dairy, and fish. A deficiency from B12 from deficiency or malabsorption may not manifest for many years (Hunt, Harrington, & Robinson, 2014). The patient states that she does not drink

The people who drank Gatorade and coffee were both only able to produce three urine samples at 30 minutes, 60 minutes, and 90 minutes. The general trend for these two drinks was that the volume of urine increased over time. The urine produced from Gatorade samples increased greatly over each sample, beginning at a low 46 mL with the first sample, jumping to 215 mL, and ending at 410 mL. The person who consumed coffee began with a moderate amount of urine at 170 mL, increased by 30 mL up to 200 mL for the second, and the final sample was 470 mL of urine. (Figure 1)

A sample of urine was taken from a patient with kidney disease was labeled as

Maple Syrup Urine Disease is a genetic disorder caused by mutation in the DBT, DLD, BCKDHB, and BCKDHA genes, which codes for Branched Chain Keto Acid Dehydrogenase (BCKD). Normally, BCKD would process the keto acid derivatives for leucine, isoleucine, and valine and continue them on their respective metabolic pathways. As a result of these breaks in the metabolic pathway, the patient may suffer from mental retardation, lethargy, poor feeding habits, vomiting, and seizures early in life. The name of this disease comes from its most distinctive symptom, the patient's urine having a burnt-caramel smell.

Moreover, the location of the living place in the world can affect some aspects causing MS to develop, and these aspects are the expose to sunlight and vitamin D concentration in the body (3,5). When people are further away from the equator, they become more in risk to have MS due to decreasing sunlight exposure and vitamin D concentration (5). The relation between sunlight exposure and vitamin D is that sunlight exposure gives the body the essential amount of vitamin D to function properly (3). When Vitamin D concentration decrease, the enzymes that help producing Calcitriol, a substance that helps the brain activate the genes essential for nervous cells to make neurotrophins protein that helps the cells to grow, decrease too causing brain problem

As the sugary syrup is forced out of the hole, they form sugar threads that are about 50 micrometer in diameter. The thread is so fine that they solidify immediately. Because the sugar thread cools immediately upon exposing to open air, the sucrose molecules do not have enough time to regroup. The threads are not sugar crystals but are thousand strands of sugar glass, which is sucrose molecules that solidify without structure. However, if the cotton candy absorb moisture from the surrounding, the water will travel along the fiber of cotton candy, At some point, each droplet of water becomes saturated and that's why the cotton candy will become

Maple Syrup Urine Disease is a potently fatal disorder which affects the body’s ability of breaking down three Branched chain amino acids: isoleucine, leucine and valine. The inability of breaking down the three-branched amino acid chain is due to defect in an enzyme called branched chain alpha ketoacid dehydrogenase. Which is the enzyme responsible for breaking down isoleucine, leucine and valine. This will result in high levels of the branched amino acids in plasma and alpha ketoacid in urine. The presence of alpha ketoacid in urine will result in a burned maple syrup odder. Hence the name, Maple syrup urine disease (MSUD).

The exact cause of MS is unknown. However, its pathogenesis is associated with irregular immune responses against CNS antigens, interference of the blood-brain barrier (BBB) and trans endothelial migration of activated leukocytes, as well as chemokines and cytokines, from peripheral circulation to the CNS. In active disease, there appears to be ongoing inflammatory as well as neurodegenerative processes within the CNS atmosphere. The triggering event for the first attack of MS remains projected. It is assumed that genetic and environmental factors are involved in the progress of MS. (Borazanci, 2009, p. 2)

MS is a disease that attacks the nervous system for mostly unknown reasons. Several possible causes can be traced to this disease, such as smoking or exposure to smoke, and a lack of vitamin D. Many disease have been tested to be linked with MS, however no test has been fully conclusive. Myelin, a protective coating around nerves, is attacked and destroyed in people with MS, and the Central Nervous System(CNS) is no longer capable of sending complete signals to other parts of the nervous system because of these broken pathways. This leads to failing in simple tasks in the most severe cases. It can begin with a numb

Therefor Patients must adhere to restricting diets that consists of: intermediate fasting and, vegetarianism. Professor Roy Swank, Professor and head of Neurology Division of the University of Oregon Medical School, theorized “saturated fats cause and worsen M.S “, later leading to dietary intervention treatments to improve the quality of life of a patient. (Jelinek, Swank) When patients have worsening symptoms, it can cause a polluted mindset-often mild depression- leading to the decrease in quality of life. (Jelink, what is M.S) The presences of depression alongside M.S worsens the physical symptoms of the disease. (Jelinek, D’Alisa) Dietary intervention allows for at home option, which also allow the patients to be in control of their quality of life. A diet free of gluten and saturated fat, but high in

Maple syrup urine disease is a disease that effects 1 in 185,00 infants worldwide. It is an autosomal recessive disease which means both parents would need to be either a carrier or have the disease, as seen in the graph from MedlinePlus at the bottom of the page. According to the (U.S. National Library of Medicine,2017) the disease is caused by a mutation in the BCKDHA, BCKDHB, and DBT gene. Which in turn makes the body lack an enzyme called BCKDC. Which is responsible for breaking down the amino acids leucine, isoleucine, and valine. These amino acids are in many types of food most commonly found in protein-rich foods such as meat, milk, and eggs. Where if you eat those kinds of food your body will not be able to break down those amino

A dysfunction of an enzyme in the peroxisome leads to the accumulation of very long-chain fatty acids (VLCFA) in several areas (several areas of what?) including the central nervous tissue(CNS). The accumulation of VLCFA is toxic leading to the death of neuroglial cells like the oligodendrocytes and astrocytes. Astrocytes in normal conditions regulate the composition of the blood-barrier in the central nervous system; The olygodendorocytes form the myelin sheath that covers the axons and facilitate the effective propagation of action terminals from the neuron to the target cells (Amerman 390). This disorder (what disorder) is caused by a mutation in the ABCD1 gene of the X-chromosome, it causes the demyelination of the neurons in the CNS inhibiting the integration of the information from sensory stimuli and the proper response to them, causing eventually death. X-linked disorders are present are a wide variety of phenotypes, CCALD is the most common and presents only on boys between the age of 4 and 12. CCALD is a rapidly progressive disease, its deteriorates the patient health in a matter of years, and due to its complexity, its commonly misdiagnosed (Engelen).

Multiple sclerosis (MS) is a degenerative and potentially debilitating disorder that affects the spinal cord and brain, collectively known as the central nervous system. Multiple sclerosis evolves gradually throughout time and is considered to be auto-immune, which means the immune system mistakenly attacks healthy cells and tissues that are supposed to be within the body. According to Medscape, symptoms consist of, but are not limited to, sexual problems, ataxia (the inability to control certain muscle movements as defined by Tortora and Derrickson), fatigue, and optic neuritis. Multiple sclerosis is characterized into four different types: relapsing-remitting MS, secondary-progressive MS, primary-progressive MS, and progressive-relapsing MS. There is currently no cure for multiple sclerosis, but there are many forms of treatments to help suppress the symptoms and hinder the progression. The Patient Education Institute lists of treatments include prescription medication and healthy lifestyle habits, such as exercising. Steroids are also administered to delay the severity of the attacks. The aforementioned details about the treatments, types, and symptoms of multiple sclerosis are merely a superficial analysis. To fully understand this disease, a more in-depth and detailed focus of its impact within the body is needed.

Classic symptoms of diabetes usually presented with newly diagnosed diabetics are: hyperglycaemia, polyuria, polydipsia, polyphagia, fatigue, blurred vision, headaches, and unexplained weight loss. Ketone bodies are found in the urine, this abnormal finding occurs when fatty acid by-products (acetones) are excreted in the urine. The ketones are present from a lack of the insulin hormone used to metabolize fats and carbohydrates. Diabetic ketoacidosis (DKA) is a life-threatening complication which results from minimal useful insulin hormone in the body, hypoglycaemia, or insufficient food intake (American Diabetes Association, 2008).