by: christer löfkrantz and nita helseth. autosomal recessive disorder protein complex bckd...
TRANSCRIPT
What is Maple Syrup Urine Disease(MSUD)?
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)
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/w
hataregd/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