1.  By: Christer Löfkrantz and Nita Helseth

2.  Autosomal recessive disorder  Protein complex BCKD (Branched- chain alpha-ketoacid dehydrogenase)  Mutations of at least four genes  Unable to break down three types of amino acids (Leucine, Isoleucine and valine)

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

4.  Sweet–smelling urine(Maple syrup)  Poor appetite  Weak suck  Vomiting  High pitched cry  Low energy/extreme sleepiness  ‘‘Meningitis’’  Seizures  Coma

5.  Early diagnosis prevent brain damage  Dietary restriction of Leucine, Isoleucine and Valine  Infants: Special formula of milk  Adult: Protein-free diet  Liver transplantation  Newborn screening

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

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