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Maple Syrup Urine Disease By: Christer Löfkrantz and Nita Helseth

By: Christer Löfkrantz and Nita Helseth. Autosomal recessive disorder Protein complex BCKD (Branched- chain alpha-ketoacid dehydrogenase) Mutations

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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

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

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