User talk:Kaylatroll

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We're so glad you're here! Stifle (talk) 10:53, 9 April 2008 (UTC)

Genetic disorder

Maple Syrup Urine Disease
An autonomic recessive inherited disorder with multiple forms of phenotypic expression caused by a defect in the oxidative decarboxylation of branched-chain amino acids. These metabolites accumulate in the body fluids and render a “maple syrup” odor. The disease is divided into classis intermediate and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis hypoglycemia emesis neonatal seizures and hypertonic. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. I chose this genetic disorder because I found it very humorous how a person’s urine could smell like maple syrup it’s mind boggling to me. Also I found it kind of frightening because if you leave it untreated it could patently cause death.

(MSUD) is an inherited disorder. The mode of inheritance is called “automat recessive” meaning that each parent carries a gene for the disorder that is passed on to the baby. The instructions it needs for growth and healthy development they come in pairs and a baby receives one copy of each gene from the mother and one from the father. Everyone has genes that have the potential to cause a serious disease. Whether they do or do not is beyond human control. There is nothing any parent can do to cause or prevent a change in a gene This disease affect mostly new born children soon after birth they appear normal and fine the defect develops in 4 to 7 days of life. Some of the symptoms are breast-feeding may delay close to second week of life. Lethargy and pore sucking with little interest in feeding are usually the first sing. This is followed by weight loss and progressive neurological sings of alternating hypertina and hypertonic with extension of the arms resembling decerebrate posturing. Ketosis and the maple syrup or burnt sugar odder becomes obvious at this time. Seizures are common if left untreated this debase could cause death. Maple syrup urine disease (MSUD) or branched-chain ketoaciduria is caused by a deficiency in activity of the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. This metabolic block results in the accumulation of the branched-chain amino acids (BCAAs) leucine and the corresponding branched -chain alpha-keto acids (BCKAs).

Infants children and even adults that exhibit the symptoms of (MSUD) can be identified with a simple blood test that measures the amount of leucine in the blood. Further testing measuring the amount and type of enzyme activity is done to confirm the diagnosis. The treatment itself consist of four main parts diet formula supplements and monitoring. 1..diet..this first aim in treatment is to cut down on the amount of protein that the person eats this means that people with (MSUD) must learn what types of food are highest in protein and avoid them. 2..formula…this requires a special protein formula it’s special because is contains all the amino acids a person needs it is almost impossible to get enough protein to stay healthy on (MSUD) diet alone 3..supplements…some forms of (MSUD) can be treated with high doses of one of the B-vitamins called thiamin. Thiamin is a co-factor that helps the BCKAD enzyme work better whether or not a patient has the thiamin responsive form of (MSUD) is determine4..monitoring…the final part of the treatment for (MSUD) is monitoring in order to know whether the other three parts of the treatment are actually working to maintain normal levels. There is a 1 out of 4 chance (25%) that they will both pass in the recessive gene and have an affected child. If only one parent passes along the recessive gene the child will be unaffected but will be a carrier for the condition like the parents. The chance of this happening is 2 out of every 4 pregnancies (50%). And finally the child may inherit neither of the recessive genes and will neither have the condition or be a carrier. The chance of this happening is 1 out of every 4 pregnancies (25%0. It is important to understand that carrier parents will have the same risk for each pregnancy regardless of how many affected or unaffected children they have had previously had. For emaple carrier parents who have had two affected children have the same chance in their third child to have the Disease.

I have learned form completing this project that Maple syrup Uren daises is more serious than one is lead on to think. there is only one way of treating this problems and it can only be treated if detected soon enough initiated before 10 days of birth gives the best results and only a few patients treated after 14 days of age achieved normal intellect.

Username
Hello, and welcome to Wikipedia!

I hope not to seem unfriendly or make you feel unwelcome, but I noticed your username, and I am concerned that it might not meet Wikipedia's username policy for the following reason: the word "troll" may be taken the wrong way, and look as if you intend to cause disruption here. After you look over that policy, could we discuss that concern here?

I'd appreciate learning your own views, for instance your reasons for wanting this particular name, and what alternative username you might accept that avoids raising this concern.

You have several options freely available to you:
 * If you can relieve my concern through discussing it here, I can stop worrying about it.
 * If the two of us can't agree here, we can ask for help through Wikipedia's dispute resolution process, such as requesting comments from other Wikipedians. Wikipedia administrators usually abide by agreements reached through this process.
 * You can keep your contributions history under a new username. Visit Changing username and follow the guidelines there.

Mango juice talk 12:23, 9 April 2008 (UTC)