Maple Syrup Urine Disease
Miranda Ross
Knudsen
Period: 6
May 29th, 2009
Cause Of Disorder
• Autosomal
• It’s inherited through parents. The trait is recessive.
• Caused by a deficiency of the branched-chain alpha-
keto acid dehydrogenase complex
• The defective gene is located on an autosome
• Usually the parents, who are the carriers, are not
affected, but the child’s genes are.
Karyotype of a
male who is
affected by
MSUD
http://austinproulx.vox.com/
Statistics of Incidence
• MSUD affects approximately 1 out of 180,000 infants
worldwide
• Occurrences in the US involve children of Amish and
Mennonite descent with an estimated incidence of about 1 in
380 newborns
• The majority of people that get MSUD are Caucasian
• Site: Genetics Home Reference
• URL:
http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease
Signs
• MSUD affects the blood, urine, and the brain. MSUD
does not effect any specific organs, except the brain.
It only builds up enough amino acids in the body to
harm the body
• Urine smells sweet because of a buildup of amino
acids
Symptoms
• Patients with MSUD experience poor feeding,
vomiting, dehydration, lethargy, hypotonia, seizures,
ketoacidosis, opisthotonus, pancreatitis, coma, or
neurological decline
• If not treated, patients usually suffer from brain
damage and die
Graphic/Image
• Two children and an
infant’s brain
affected by MSUD.
Quality of Life
• MSUD usually effects babies from all ages.
• Newborn infants require a special formula that
doesn’t consist of leucine, isoleucine, and valine.
• Older infants require a diet not consisting of meat,
eggs, and nuts.
• If the baby is not treated or screened, the baby will
die within months.
Diagnosis/Detection
• To determine if someone has MSUD, you have to look
at the urine odor for a sweet smell
• Or the patient can take a blood test for amino acids
• If alloisoleucine is detected, the diagnosis is
confirmed
• Some U.S states screen newborns right away after
birth
About.com; Rare
Diseases
Treatments and Cures
• Treatments for MSUD is restriction from dietary forms
of the three amino acids leucine, isoleucine, and
valine
• MUSID doesn’t usually leave any damage if it’s
treated. If not, it will damage the brain
History and Current Research
• MSUD was discovered in 1958. MSUD was reported by a
family who had noticed that their child’s urine resembled
maple syrup
• In 1971, Scriver et reported the first case of thiamine-
responsive MSUD
• There, of course, is still people al that have this disease. A
person that has this rare disease is a girl named Haley Su
Kohl. Her family is researching about the disease and helping
her fight off MSUD
• Some good treatments they found were having special amino
acids added to a diet with carefully controlled amounts of
food to provide the protein necessary for normal growth and
development without exceeding the level of tolerance.
http://www.msudresearchfoundation.org/
Genetic Counseling
• A doctor would tell carrier parents that if they plan
on having children, that their children will most
likely get the disease
www.sciencecases.org
Pedigree
Punnett Square
• If you cross a
heterozygous female
with a heterozygous
male, there’s a 25%
chance their child
will be homozygous
recessive, which
means they will have
MSUD.
Myths, Facts, Story of Courage
• Maple Syrup Urine Disease can only affect newborns. It’s
hereditary and can NOT affect you now. The best advice
would be to get your child treated if it has MSUD.
• Jakob Jasin, now 5, son of Chris and Susan Jasin of Fairfax,
Va., became the first patient with MSUD to be transplanted
at Children's on May 30, 2004. Jakob, who was 4 when
transplanted and named his new liver "Tommy," is now free
from the symptoms of the disease. Jakob was discharged from
Children's 11 days after his transplant -- approximately six
months after Children's established a comprehensive protocol
that provides guidelines and safety nets for MSUD
transplantation.
Bibliography
• (2003). About: MSUD. Retrieved May 19, 2009, from Maple Syrup
Urine Disease Research Foundation Web site:
http://www.msudresearchfoundation.org/
• (2006, February). Maple syrup urine disease - Genetics Home
Reference. Retrieved May 5, 2009, from Maple syrup urine disease
Web site: http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease
• Bodamer, MD, PhD, FACMG, Olaf A (2008, July 7). Maple Syrup
Urine Disease: eMedicine Pediatrics: Genetics and Metabolic Disease.
Retrieved May 19, 2009, from Maple Syrup Urine Disease Web site:
http://emedicine.medscape.com/article/946234-overview