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Maple Syrup Urine Disease

Maple Syrup Urine Disease. By: Christer Löfkrantz and Nita Helseth. What is Maple Syrup Urine Disease (MSUD)?. Autosomal recessive disorder Protein complex BCKD ( Branched-chain alpha- ketoacid dehydrogenase) Mutations of at least four genes

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Maple Syrup Urine Disease

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  1. Maple SyrupUrineDisease By: Christer Löfkrantz and Nita Helseth

  2. What is Maple SyrupUrineDisease(MSUD)? • Autosomal recessive disorder • Protein complex BCKD (Branched-chain alpha-ketoacid dehydrogenase) • Mutationsof at leastfour genes • Unable to break downthree types ofamino acids (Leucine, Isoleucine and valine)

  3. Whathappens? • Accumulation of the amino acids in the blood • Toxic substances • Cause permanent brain damage • Developmental delay • Mother’s milk • Infection

  4. Symptoms • Sweet–smellingurine(Maple syrup) • Poorappetite • Weaksuck • Vomiting • High pitchedcry • Lowenergy/extremesleepiness • ‘‘Meningitis’’ • Seizures • Coma

  5. Treatment • Earlydiagnosispreventbraindamage • DietaryrestrictionofLeucine, Isoleucine and Valine • Infants: Special formulaofmilk • Adult: Protein-free diet • Liver transplantation • Newborn screening

  6. Statistic • Aproximately 1 in 185 000 infants each year are diagnosed with MSUD worldwide • 10 cases of MSUD are known in Norway

  7. References • http://learn.genetics.utah.edu/content/disorders/whataregd/msud/ • http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease • http://www.patient.co.uk/doctor/Maple-Syrup-Urine-Disease.htm • http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html#1 • http://www.sjeldnediagnoser.no/?k=sjeldnediagnoser/Maple%20Syrup%20Urine%20Disease%20(MSUD)&aid=8729

  8. Thankyou for listening

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