Maple Syrup Urine Disease Case Study

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Fundamentals of Biochemistry in the Biotech Industry
Maple Syrup Urine Disease: A Sweet Scented Killer
Maple Syrup Urine Disease (MSUD) is a rare, potentially deadly disorder where the body cannot break down the three branched- chained amino acids (BCCA): leucine, isoleucine and valine. These amino acids are used to build proteins and when they are not being used they can be broken down and recycled in the cell. The complex that breaks these amino acids down is called BCKD (branched-chain alpa-ketoacid dehydrogenase) and is made up of six proteins. When a person has a mutation in one of the six proteins that creates the complex, the complex does not fold properly and does not work as it is supposed to. If this complex is not working properly
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The classic type of the disease is currently the most difficult to treat due to its severity. The intermediate and intermittent types of the disease are more commonly treated. Because the patient’s body cannot properly breakdown BCAAs, a BCAA free diet is the most common treatment. This treatment was introduced in 1964 and is still the most used way to manage the disease (Skvorak 2009). Considering that 20% of all dietary protein consists of BCAAs, a regulated non BCAAs containing diet is difficult to maintain for most. In addition to the diet being difficult to maintain, restriction of these amino acids slows down normal growth and development. Dinitrophenylhydrazine reagent allows home detection of BCAAs in the urine during metabolic decompensation. Home treatment requires frequent outpatient monitoring and it is better to have experienced providers managing treatment. One of the major causes of hospitalization for patients restricting their diet tends to be vomiting. Classic MSUD has shown not to respond well to dietary restriction due to the severity of the disease (Skvorak …show more content…
Haemodialysis, or kidney dialysis, along with a BCAA restrictive diet at the time of diagnosis has showed favorable results. Kidney dialysis, also known simply as dialysis, is the process of cleansing the blood of toxins, extra salts and fluids through a dialysis machine. This helps maintain proper chemical balance for specific salt atoms like potassium and sodium and keeps blood pressure under control. By pairing dialysis with diet, accumulation of BCAAs decreased by 75% within just three hours. This treatment also helps reduce the risk of permanent neurological developmental issues due to the fact that it occurs at the time of diagnosis, usually within 24-48 hours of birth. Other treatments similar to this have shown success, however, they tend to be costly and time consuming. These types of treatments are best used at initial diagnosis or when a patient’s BCAAs are in crisis mode and they must be hospitalized for long term treatment (Skvorak

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