Maple Syrup Urine Disease By Christer Lfkrantz and
Maple Syrup Urine Disease By: Christer Löfkrantz and Nita Helseth
What is Maple Syrup Urine Disease(MSUD)? Autosomal recessive disorder Protein complex BCKD (Branchedchain alpha-ketoacid dehydrogenase) Mutations of at least four genes Unable to break down three types of amino acids (Leucine, Isoleucine and valine)
What happens? Accumulation of the amino acids in the blood Toxic substances Cause permanent brain damage Developmental delay Mother’s milk Infection
Symptoms Sweet–smelling urine(Maple syrup) Poor appetite Weak suck Vomiting High pitched cry Low energy/extreme sleepiness ‘‘Meningitis’’ Seizures Coma
Treatment 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
Statistic Aproximately 1 in 185 000 infants each year are diagnosed with MSUD worldwide 10 cases of MSUD are known in Norway
References http: //learn. genetics. utah. edu/content/disorders/whatareg d/msud/ http: //ghr. nlm. nih. gov/condition/maple-syrup-urinedisease http: //www. patient. co. uk/doctor/Maple-Syrup-Urine. Disease. htm http: //www. newbornscreening. info/Parents/aminoaciddis orders/MSUD. html#1 http: //www. sjeldnediagnoser. no/? k=sjeldnediagnoser/Ma ple%20 Syrup%20 Urine%20 Disease%20(MSUD)&aid=87 29
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