Maple Syrup Urine Disease

1. Maple Syrup Urine Disease Stephanie Taylor

2. Maple Syrup Urine Disease • MSUD • BCKD Deficiency • Classical Maple Syrup Urine Disease • Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency

3. 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

4. CHROMOSOME GRAPHIC

5. SYMPTOMSOF MSUD • Poor feeding • Vomiting • Poor weight gain • Increasing Lethargy • Burned sugar smell to urine or maple syrup • seizures

6. 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)

7. 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

8. 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.

9. 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.

10. 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.

11. Parent one is homozygous recessive and not a carrier for MSUD Parent two is a heterozygous dominant carrier of MSUD. There is a50% chance their offspring will have the disease and a 50% their offspring will not. d d Dd Dd D dd dd d PUNNETT SQUARE

12. 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.

13. CREDITS • Mamma.com • Google.com • About.com • Everydayhealth.com • Allrefer.com/edu/health • Askjeeves.com