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Maple Syrup Urine Disease
- 1. MAPLE SYRUP URINE DISEASE It’sMechanism and Management Presented by, Pavithra B R BSc Microbiology
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- 3. MSUD is aGenetic Metabolic Disorder Inherited from Parents Urine People with this condition has the odour of maple syrup or burnt sugar in their urine.
- 4. MAPLE SYRUP URINEDISEASE Leucine Isoleucine Valine 2-ketoisocaproate 2-keto-3-methylvalerate 2-ketoisovalerate Branched Chain α-ketoacid Dehydrogenase (BCKD) Deficiency of an enzyme complex The body cannot properly breakdown certain part of protein building blocks. MSUD is characterized by deficiency of an enzyme complex (branched chain alpha keto acid dehydrogenase) that is required to breakdown the three branched chain amino acids (BCAA's) leucine, isoleucine and valine in the body. The result of this metabolic failure is that all three BCAA's, along with a number of their toxic by-products, build up in the body and all accumulate abnormally.
- 5. MAPLE SYRUP URINEDISEASE Distribution • MSUD is very rare. • It occurs in about 1 in 185,000 births worldwide. • Small gene pool. • When cousins and other close relatives have children together. • About 2,000 people in the United States live with MSUD. • It affects males and females equally.
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- 7. MAPLE SYRUP URINEDISEASE Symptoms Urine smell like Maple Syrup Poor Feeding Vomiting Weight Loss The symptoms and severity of MSUD varies greatly from patient to patient and largely depends upon the amount of residual enzyme activity.
- 8. MAPLE SYRUP URINEDISEASE Symptoms • Irregular sleep pattern • Breathing difficulties • Near-sightedness • Flush around the cheeks • Long limbs If untreated, MSUD can lead to coma or death.
- 9. MAPLE SYRUP URINEDISEASE Types Classic Classic maple syrup urine disease is the most severe type of MSUD. It is also the most common. Symptoms usually develop within the first three days of birth. Intermediate This type of MSUD is less severe than classic MSUD. Symptoms typically appear in children between the ages of 5 months and 7 years. Intermittent Children with intermittent MSUD develop as expected until an infection or period of stress cause symptoms to appear. People with intermittent MSUD can usually tolerate higher levels of the three amino acids than people with classic MSUD. Thiamine- responsive This type of MSUD responds to treatment using high doses of vitamin B1 (thiamine) along with a restricted diet. With treatment, people with thiamine-responsive MSUD have higher tolerance for the three amino acids.
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- 11. Valine Isoleucine Leucine α-ketoacids Step1 The first step in a branched amino acid metabolism involves the enzyme branched chain amino transferase. This enzyme converts the three branched chain amino acids valine, isoleucine and leucine into α- ketoisovalerate, α-keto-β- methylvalerate and α- ketoisocaproate. So, these three are known as α-keto acids.
- 12. Step 2 Branched ChainKetoacid Dehydrogenase (BCKD) Irreversible step
- 13. Once we havethe three alpha keto acids, they can be acted on into the second step by the enzyme branched chain alpha-ketoacid dehydrogenase to produce a variety of metabolites like Propionyl CoA, Acetyl CoA and Isovaleryl CoA. This step is an irreversible step. These metabolites can be further processed into other metabolites that can be used in the TCA cycle. Now, what happens in maple syrup urine disease is that the enzyme branched chain alpha-ketoacid dehydrogenase is dysfunctional. So, what happens is we can’t actually process the alpha keto acids or the branching amino acids any further. So, we get an increase in concentration of valine, isoleucine and leucine along with the keto acids themselves. Maple Syrup Urine disease Mechanism
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- 16. TOO LITTLE TOOMUCH BCAA INTAKE LEUCINE LEUCINE LEUCINE LEUCINE LEUCINE LEUCINE Isoleucine Isoleucine Isoleucine Isoleucine Isoleucine Isoleucine Isoleucine VALINE VALINE VALINE VALINE VALINE VALINE
- 17. Small amounts ofbreast milk or standard instant formula Avoid foods high in protein Dietitian will help determine diet routine Your clinic will teach you how to track and limit BCAA
- 18. • Does notcontain BCAA • Provides necessary nutrients • MSUD Anamix® Early Years • DHA for Brain and Eye Development • Prebiotics to support immune and digestive health Special Metabolic Formula
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- 25. PREVENTION OF MSUD DNAtesting in a foetus before birth
- 26. REFERENCE Websites • https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease • https://www.epainassist.com/metabolic-disorders/maple-syrup-urine-disease-or-msud •https://rarediseases.org/rare-diseases/maple-syrup-urine- disease/#:~:text=Maple%20syrup%20urine%20disease%20(MSUD,and%20valine%2C%20in%20t he%20body. YouTube • Nutricia Metabolics - https://www.youtube.com/watch?v=DkAVNQBK6uI&t=333s • JJ Medicine - https://www.youtube.com/watch?v=MFDPRNNSikw&t=201s
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