By Christer Löfkrantz and Nita Helseth What is Maple Syrup Urine Disease MSUD Autosomal recessive disorder Protein complex BCKD Branchedchain alpha ketoacid dehydrogenase ID: 916358
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Slide1
Maple Syrup Urine Disease
By: Christer
Löfkrantz
and Nita Helseth
Slide2What is Maple Syrup Urine
Disease(MSUD)?
Autosomal recessive disorderProtein complex BCKD (Branched-chain alpha-ketoacid dehydrogenase)Mutations of at least four genesUnable to break down three types of amino acids (Leucine, Isoleucine and valine)
Slide3What happens?
Accumulation of
the amino acids in the
bloodToxic substancesCause permanent brain damageDevelopmental delayMother’s milkInfection
Slide4SymptomsSweet–
smelling
urine(Maple
syrup)Poor appetiteWeak suckVomitingHigh pitched cryLow energy/extreme sleepiness‘‘Meningitis’’ SeizuresComa
Slide5Treatment
Early
diagnosis prevent brain damageDietary restriction of Leucine, Isoleucine and ValineInfants: Special formula of milk Adult: Protein-
free
diet
Liver
transplantation
Newborn
screening
Slide6StatisticAproximately 1 in 185 000 infants each year are diagnosed with MSUD worldwide
10 cases of MSUD are known in Norway
Slide7Referenceshttp://learn.genetics.utah.edu/content/disorders/whataregd/msud
/
http://
ghr.nlm.nih.gov/condition/maple-syrup-urine-diseasehttp://www.patient.co.uk/doctor/Maple-Syrup-Urine-Disease.htmhttp://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html#1http://www.sjeldnediagnoser.no/?k=sjeldnediagnoser/Maple%20Syrup%20Urine%20Disease%20(MSUD)&aid=8729
Slide8Thank
you
for listening