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MAPLE SYRUP URI NE DISEASE (MSUD) I S A METAB OLI SM DI SORDER PASSED DOWN THROUGH FAMI LI ES I N WHICH THE B ODY CANNOT BREAK DOWN CERTAI N PARTS OF
PROTEINS. URI NE I N PERSONS WITH THIS CONDIT ION
CAN SMELL L IKE MAPLE SYRUP.
Maple syrup urine disease
Amnah Mahroo
Maple syrup urine disease (MSUD)
a metabolic disorder of branched chain amino acids
caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC)
Accumulation of leucine Isoleucine and valine in the blood and urine
Genetic prevalence
Maple syrup urine disease affects approximately 1 out of 180,000 infants
autosomal recessive disorderfour genes produce proteins that work
together as the (BCKDC) complex
BCKDHABCKDHBDBTDLD
Diagnosis and Symptoms
presence of sweet-smelling urine and earwax poor appetite weak suck weight loss high pitched cry Vomiting
If not treated, other symptoms can follow: swelling of the brain seizures metabolic acidosis mental retardation or spasticity coma, sometimes leading to death
Signs and tests
Plasma amino acid testUrine amino acid test
Newborn screening tests Inborn errors of metabolism
Isoleucine•Children: 37 to 140•Adults: 42 to 100
Leucine•Children: 70 to 170•Adults: 66 to 170
Valine•Children: 160 to 350•Adults: 150 to 310
PLASMA AMINO ACID CONCENTRATIONS
TREATMENT FOR MSUD
A protein-free dietA special medical formula as a substitute for milkFluids, sugars and fats are given through a vein
(IV)Diet low in branched-chain amino acidsThiamine Supplements Tracking BCAA levelsDialysisLiver transplantationhttp://www.newbornscreening.info/Parents/amino
aciddisorders/MSUD.html
References
The MSUD Family Support Grouphttp://www.msud-support.org/
CLIMB (Children Living with Inherited Metabolic Disorders)http://www.climb.org.uk
Genetic Alliancehttp://www.geneticalliance.org/
http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/ http://en.wikipedia.org/wiki/Maple_syrup_urine_disease http://www.nlm.nih.gov/medlineplus/ency/article/000373.ht
m http://
emedicine.medscape.com/article/946234-overview#a0104 http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/