Maple Syrp Research Paper

1325 Words6 Pages
Maple Syrup Urine In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. Special enzymes then make changes to the amino acids so the body can use them. Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in people with this condition can smell like maple syrup. MSUD is a potentially deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and valine. People with MSUD have a mutation that results in a deficiency for one of the 6 proteins that make up this complex. Therefore, they can't break down leucine, isoleucine, and valine. They…show more content…
Classic maple syrup urine disease (MSUD) is the most common form, with symptoms developing in neonates aged 4-7 days, depending on feeding regimen. Breastfeeding may delay onset of symptoms to the second week of life. The initial symptoms typically include poor feeding, vomiting, poor weight gain, and increasing lethargy. In cases of non-classic MSUD, onset may be later and symptoms may vary. The clinical presentation of a child with MSUD widely varies between patients. However, 5 distinct clinical phenotypes can be distinguished based on age of onset, severity of clinical symptoms, and response to thiamine treatment as part of a clinical spectrum. These clinical phenotypes are the classic, intermediate, intermittent, thiamine-responsive, and E3-deficient forms of…show more content…
The mainstay in the treatment of MSUD is dietary restriction of branched-chain amino acids. Aggressively treat episodes of metabolic decompensation. Start I.V. glucose infusion as quick as possible. Insulin infusions may be added to promote anabolism. In rare circumstances, hemodialysis or peritoneal dialysis is required to remove branched-chain amino acids and keto acids. Three successful liver transplants in patients with classic MSUD have been reported. Children in a different study realized a high rate of patient and graft survival with normal liver function in all patients. The patients who were mentally impaired before transplantation realized no change in neurocognitive function 1 year later. These results suggest that liver transplantation may be an effective treatment for classic MSUD; while it may arrest brain damage, it will not reverse it. However, consider the risks and potential long-term complications of liver transplantation in contrast to the beneficial low-risk dietary therapy that has equally good

More about Maple Syrp Research Paper

Open Document