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					Maple Syrup Urine Disease




        Stephanie Taylor
Maple Syrup Urine Disease
 • MSUD
 • BCKD Deficiency
 • Classical Maple Syrup Urine Disease
 • Branched Chain Alpha-Ketoacid
   Dehydrogenase Deficiency
Maple Syrup Urine Disease

• Gene defect
• People with this disease are missing the
  enzyme BCKD ; branched chain-alpha
  ketoacid-dehydrogenase
• This is a recessive disease
• This disease comes to every 1 to 180,000
  births
CHROMOSOME GRAPHIC
SYMPTOMS
OF MSUD
 • Poor feeding
 • Vomiting
 • Poor weight gain
 • Increasing Lethargy
 • Burned sugar smell to
   urine or maple syrup
 • seizures
DIAGNOSTIC TESTING
• Ketosis (elevated levels of ketone
  bodies in urine and plasma)
• Acidosis (excess acid in blood)
• Plasma amino acids ( tests urine
  and amino acids )
• Urine amino acids (elevated levels
  of the amino acids leucine,
  isoleucine, and valine)
PROGNOSIS (Expectations)
 • If left untreated, life-threatening
   neurological damage may result. Even
   with dietary treatment, stressful
   situations and illness can still cause
   bouts of acidosis.
 • Death may occur during these
   episodes. With strict dietary treatment,
   children can grow into healthy
   adulthood.
 • Coma
 • Life expectant 11years
TREATMENT
  • Treatment can only be provided in early
    detection.
  • Peritoneal dialysis or hemodialysis are
    used to remove the high levels of amino
    acids.
  • To prevent mental retardation,
    treatment must begin shortly after birth.
    Since protein is essential for normal
    growth and development.
CURRENT RESEARCH
• Amino Acid Analyzer ; recieves blood test
  results. Blood should be drawn every other
  week.
• Aim is to understand the molecular basis of
  neural cell loss following brain injury in new-
  born infants. By combining the manipulation
  of apoptotic signalling pathways with a stem
  cell-based therapy approach, in the longer
  term we aim to reduce the very high
  prevalence of neurodevelopmental
  impairment in infants born at less than 30
  weeks gestation.
GENETIC COUNSELING
 • The discriminatory power of a quantitative
   heterozygote test for Maple Syrup Urine Disease
   that have been using is analyzed on the
   presumption that a single rare mutant allele is
   involved in MSUD. Bayes theorem then predicts
   that only a small portion of persons from the
   general population with activities in the
   heterozygous range really are heterozygotes. In
   addition, overlap of heterozygous and normal
   homozygous activity distributions requires high
   activities in first-cousin matings of a patient's sib
   in order to obviate the necessity for prenatal
   diagnosis.
 • This principle emerges that quantitative
   heterozygote tests for rare autosomal recessive
   diseases cannot fulfill the task they were
   designed for.
   PUNNETT SQUARE
• Parent one is
homozygous recessive
and not a carrier for
MSUD
• Parent two is a
heterozygous                 d   d
dominant carrier of
MSUD.
• There is a50%
chance their offspring   D   Dd Dd
will have the disease
and a 50% their
offspring will not.
                         d   dd dd
A GREAT STORY
• About one in every 200,000 babies in the
  United States is born with MSUD.
• There are four different classifications
  used to describe MSUD: classic,
  intermediate, intermittent, and thiamin-
  responsive. These classifications are
  based on the amount and type of enzyme
  activity present, which can vary even
  within each classification. In the most
  common form, classic MSUD, there is little
  or no enzyme activity present.
CREDITS
• Mamma.com
• Google.com
• About.com
• Everydayhealth.com
• Allrefer.com/edu/health
• Askjeeves.com

				
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posted:2/29/2012
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