Maple Syrup Urine Disease Analysis

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Maple Syrup Urine disease
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)
MSUD was first brought up by a pediatrician by John Menkes in 1954. He first noticed it by observing a family that happened to have several cases of MSUD. In the study he had lost four babies within three months. Physicians and biochemists both worked as a pair to define this “inborn error of metabolism.” In history these problems in nature acted as a tool for investors as a genetic tool to tell us unknown pathways and why MSUD is used as this role for BCAA(in …show more content…

Someone wouldn’t get these all at once, they correlate to each kind of MSUD. Lethargy- lethargy is when you have a lack of energy and enthusiasm. Poor appetite- poor appetite is when you don’t want to eat as much as you usually do. Weight loss- Weight loss is when you lose weight, (mostly in adults). Weak sucking ability- weak sucking ability is when you’re not able suck as hard as you usually can. Irritability- irritability is when you get irritated or crabby easier. Maple syrup smelling urine, ear wax and sweat. Not being able to sleep. Muscle rigidity- muscle rigidity is when your muscles stay tensed up and tend to get very sore. Muscle limpness- muscle limpness is when you are not able to move your muscles as easy as you usually are able to. (High-pitched cry- Only in infants)
The symptoms for MSUD depend on its type of MSUD. There are four types; Classic MSUD, Intermediate MSUD, Intermittent MSUD and Thiamine-responsive MSUD. They are all inherited by genetics. The difference depends on how severe it is, how active their enzymes are and the age when this disorder …show more content…

The odor is caused when someone is not able to metabolize the branched chain a-ketoacid (BCKA). This problem happens because of their branch chain amino acids (BCAA); leucine, isoleucine, and valine.
Other Problems Associated With Maple Syrup Urine Disease(Diet) Leucine is not a good acid to to have while having MSUD, but it is a necessary amino acid that you need to have. It is the most toxic of the BCAA and it is in foods in higher percentages than valine or isoleucine. Every patient is different so their tolerance of leucine has to be calculated to follow the measurement of BCAA levels. Then it has to be remeasured at the correct intervals for the first six to 12 months. (, 2004)
Risk Factors The National Organization for Rare Disorders (NORD) says that MSUD happens to males and females at the same rate. The risk of having any form of MSUD depends if your parents have this disorder or not. If both of the parents have the disorder, each child has a 25 percent chance of getting two mutated genes and getting MSUD, the child would have a 50 percent chance from getting one normal gene from each parent. The parent or parents are not able to pass on the gene to their children if they have two normal genes for MSUD. (Healthline,

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