Maple syrup urine disease (MSUD) is a genetically inherited disease where the body is unable to process amino acids properly. This particular disease is caused by a defect in your genes. People affected by MSUD has a buildup of these amino acids in their blood. In the most severe state, MSUD causes damage to the brain when stress starts to become a problem; this stress includes: infection, fevers, or not eating for a long period of time. Symptoms of this disease include: coma, feeding difficulties, lethargy, seizures, urine that smells like maple syrup, and vomiting. There are three particular tests that doctors use to check for this disorder. If they feel this rare disease is possibly the problem, they will use one of the following tests:
Mrs. Dey reported she had been extremely sick with the anti-seizure medications and her primary care advised her to stop the current medication and go into the hospital. She was hospitalized overnight in observation and Dr. Hardy requested she come into his office the following Monday, September 11, 2017. Due to the unexpected appointment, I had a scheduling conflict and my colleague Laurie Wawrzynaik RN, BSN, MA, attended.
British seizures were humiliating to Americans because they were much stronger than France. The British added impressment to these incitements. The Royal Navy seized British civilians and forced them into service. They also seized suspicious Royal Navy deserters from American merchant ships. Impressment was upsetting to American
Epilepsy. In epilepsy, the grand mal seizure often begins with a sudden loss of consciousness and fall to the ground. The initial motor signs are a brief flexion of the trunk, an opening of the mouth and eyelids, and upward deviation of the eyes. The arms are elevated and abducted, the elbows semiflexed, and the hands pronated. These are followed by a more protracted extension phase, involving first the back and neck, then the arms and legs. There may be piercing cry as the whole musculature is seized in a spasm and air is forcibly emitted through the closed vocal cords. Since the respiratory muscles are caught up in the tonic spasm, breathing is suspended, and after some seconds, the skin and mucous membranes become cyanotic. The pupils are
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).
I realized throughout the three chapters that Shawn likes to have the seizures even if even he can slightly see the sadness in his family. Specifically in chapter 6 he talks about how even a seizure occurs it feels like a miracle because of how it feels and the images he can see when the seizure happens like seeing the colors red and blue. Also when he describes the seizures when it happens to him he explains the events that happen and he describes it in a way that he enjoys it. But the only event that he doesn’t seem to like is that was in chapter 7, which was when his dad came from that news report during school. Which then a seizure happens in the middle of the news report and he can faintly hear his dad saying, “end his pain.” After this
Epilepsy is a medical ailment in which nerve cell activity in the brain is disturbed, causing seizures. Epilepsy consists of many levels of severity; there are staring spells on the lower end, and Grand Mal seizures on the higher end. Cheyenne is on the lower end with staring spells, memory loss, and involuntary talking it’s called Partial Onset Seizures; she has the potential that it can have it turn into Grand Mal seizures at any point in her life. On the path to discovering her epilepsy, it changed her and her family’s lives forever.
Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to break down (metabolize) specific amino acids in the body.(WebMD, 2015)
Seizure: Origins, Text, And History). The second was the importance that prohibition-era cases began to place on requiring a warrant to search and seize evidence (Search and Seizure: Origins, Text, And History). Third was the rising standard of probable cause need to achieve a search warrant (Search and Seizure: Origins, Text, And History). This effectively made Fourth Amendment law standard while ensuring that probable cause was needed to achieve a warrant.
Epilepsy and Seizure Disorder: All actions and functions travel to the different parts of the brain much like electrical wiring. The “electricity” moves from one area or wired circuit through another by jumping and traveling from area to area much like electricity Due to abnormal electricity and “jumping” seizures can occur. Epilepsy is where these electoral abnormalities are reoccurring often causing many seizures. The Tonic-Clonic or Grand Mal seizures that CM has is from muscles tightening and relaxing very fast due to the abnormal jumping of electricity in the brain. P. 417
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
Seizure disorders, according to the Mayo Clinic (2015), affect approximately 1 in 26 people in the United States. Persistent, or chronic, seizures result from a condition called epilepsy, a neurological disorder of the central nervous system. It can affect anyone regardless of age, but is more common during early childhood and after age 60. Given the number of people that seizure disorders, such as epilepsy, affect, it becomes helpful to gain a foundational understanding of the disease, including some of the causes, symptoms, and treatments available.
The quote “Life starts over again when it gets crisp in the fall” was said by Jordan as misery keeps approaching. Daisy sees life very negatively, she sees life as a cycle of boredom that eventually leads to death. Jordan thinks differently and says the quote “Life starts over again when it gets crisp in the fall.” Jordan sees growth and reborn of life in the fall. The image drawn depicts this quote very well. Orange, falling trees with dead leaving falling from the tree portrays the fall. The fall is the season where plants and tree usually die due to the climate change. On the other side of the picture, wind and a pack of clouds are drawn to emphasis the gloom and sadness of the fall. But then on the very edge of the cloud, there s a bright
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.
Maple syrup urine disease or MSUD is a genetically inherited disease, characterized by a maple syrup odor found in the sweat, urine and earwax of affected individuals. Maple syrup urine disease was first documented in medical literature in 1954 by John Hans Menkes, a pediatric neurologist who would also discover Menkes Disease. People with maple syrup urine disease lack specific enzymes required to metabolize certain amino acids. Maple syrup urine disease is also commonly known as BCKD deficiency, Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency, Branched Chain Ketonuria I, Classical Maple Syrup Urine Disease or MSUD. There are several subtypes of MSUD each with varying levels of severity and symptoms. MSUD is inherited which makes prevention impossible, management relies on early detection and attempting to prevent acute episodes. This paper will cover the pathophysiology, subtypes, symptoms, genetics, rarity, and treatment for MSUD.
Several people suffer from grand mal seizures but what if you suffered from another seizure and never knew anything was happening, this is called an absence seizure. When a absent seizure occurs the regular electricity of the brain is interrupted. although absent seizures do not look like much when they occur they still can be as dangerous as grand mal seizures. These absent seizures, formerly called petit mal, have impacted my life and I have several gaps of time missing from me. Absence seizures most likely occur at a young age but are often outgrown by 18. With later onset of absence seizures there is a higher chance that they will stay into adulthood. The signs that someone is having a seizure are very subtle and happen only for a few seconds at a time, so the chances of catching one is small.