Urine or little urine smell like maple syrup - a sweetener made from the sap of maple trees? Well, yes you may be surprised by the headline above. But this is a real place loh! Medical terms, Maple Syrup Urine Disease (MSUD), which is one of the congenital metabolic disorders (RTC) that is associated with abnormal amino acid in the body.
Although rare, but if not handled immediately, MSUD is already acute in infancy can cause developmental delay and death in the first months of life.
Inhibitory KMB Metabolism
The term of congenital metabolic disorders (RTC) or inborn errors of metabolism may not be familiar to the layman. However, since the term was invented in the RTC in 1908 by Sir Archibald Garrod, until today no less 400 species known diseases associated with metabolic defects. Although categorized as a very rare disease (incidence of each disease ranged 1:100,000) but if counted as one single group of diseases RTC, the incident could reach 1:1000-2500.
"Publication of data on the incidence of the RTC in Indonesia until there is currently no. However, the live birth rate estimated at 4.5 million per year in Indonesia (UNICEF Indonesia in 2005) will get the range of 900-4500 with KMB babies every year, "said dr. Prawitasari gout, SpA from the Department of Pediatrics, Cipto Mangunkusumo Hospital, Jakarta.
KMB is a hereditary disorder at the level of genes that cause deficiency, dysfunction of an enzyme or other protein to hamper our metabolism.
Furthermore, a pediatrician who struggle daily in the Division of Nutrition and Metabolic Diseases was added, "This teaching often does not show clinical signs and symptoms specific. KMB manifestations can occur at any age, whether the neonates, children and adults. Symptoms also may be associated with various organs, such as central nervous system, heart, liver and kidney. The clinical manifestations can occur in acute and progressive, slow and gradual until the chronic. In neonates, the clinical manifestations which often occurs as a bad drinking tolerance, respiratory distress, convulsions and vomiting. Given its manifestations are not typical, the RTC in neonates is often too late to be diagnosed. "
Amino Acid Disorders
If the enzymes involved in amino acid metabolism deficiency will lead to substances that are toxic and can eventually cause organ damage.
"Abnormal metabolism of amino acids can occur at any age. But a new manifestation emerge if the process of protein catabolism, for example in the newborn: providing intake is too late (too long of fasting), infancy: changes in intake of foods rich in protein, state of infection, vomiting and poor intake), the onset of puberty: increased growth rate, "said dr. Globule.
Maple Syrup Urine Disease (MSUD)
Itself is included in the RTC MSUD associated with protein metabolism and the amino acid. Classical MSUD Symptoms generally occur in newborns aged 4-7 days with initial symptoms did not want to drink, vomiting, lethargy (weak, very sick).
Clinical symptoms that may occur, neurological abnormalities (neurological), namely in the form of changes in muscle strength (hipotoni/decreases, hipertoni/increase). In addition, seizures and decreased consciousness (encephalopathy), which progressively on days 3 and 5, the comma, and the evidence smells like maple syrup urine has smelled from the beginning of symptoms occurred. Smell of maple syrup is associated with increased levels isoleucine on the body.
"In MSUD the juvenile or late onset (already in childhood) may experience delays in development, but symptoms usually occur when there is a trigger of the cracking process (catabolism) proteins, such as infection, surgery, trauma(injury/accident), another dab -Other. MSUD recessive reduced, indicated by the number of events that is 1:200.000. The success rate of therapy is determined if the treatment has been carried out since the beginning (fifth day of life) and implemented in strict and precise, "bright devotee was traveling and watching movies.
Handling
Generally, patients are given:
- A diet that does not contain amino acids that accumulate, and provide protein/amino acids are not formed due to deficiency of an enzyme to block its formation. Due to a disparity in the path of protein catabolism (certain) then given a meal that does not contain any protein.
In MSUD, do not give the amino acid leucine, isoleucine and valine. In other countries there are special formulas designed specifically so it does not contain amino acids, such as MSUD1, MSUD2, phenylalanine-free milk, and so on.
- In the early phase (the newborn) is given carbohydrate (glucose/sugar) and subsequent amino acid-free diet in accordance with katabolismenya pathway disrupted.
- Addition of vitamins and minerals suplematasi necessary (depending on the abnormalities that exist). If proven the existence of a specific vitamin deficiency, can be added vitamins. Additions can not be generalized, again depending on the path which led to disrupted and whether the deficiency of certain vitamins and minerals.
- Fixed monitor child growth and development. Weight and height measurement of weight, circumference of head, and monitoring of development milestones (both motors rough, smooth and languages) should be performed on all children.
- Children who experience the RTC is often delayed growth and development, whether caused by the illness itself or because the intake is less (given the restriction and prohibition of certain substances will limit food choice). For laboratories that do periodic checks to ensure there is no shortage of excess/lack of certain substances in the body caused by disease or therapy.
- If there was suspicion of congenital metabolic disorders may be referred to the Division of Nutrition and Metabolic Diseases, Department of Pediatrics Cipto Mangunkusumo Hospital in Jakarta to be evaluated and subsequent handling.
(Mom & Kiddie/ftr)
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