Thea was born healthy in Texas in 2013 but began showing signs of distress after being home for a few days. She refused to nurse and had a sweet smell to her diaper which concerned her parents. A few days later she had a seizure, so her parents took her to the emergency room. There, the doctor ordered tests of her blood amino acid levels to diagnose a potential genetic metabolic disorder.

1. 1. Thea was a born in March of 2013 in Texas. At birth she was a healthy baby and was able to
latch and feed normally. Her parents followed all recommendations by the hospital staff and
were allowed to return home just 12 hours after birth. Three days after arriving home, Thea
began to become very fussy. Her parents thought this was normal behavior and spent more time
holding and comforting her. On day four Thea refused to nurse and her dad noticed that she
smelled very sweet when he changed her diaper. On day six, Thea had what appeared to be a
seizure and her parents rushed her to the emergency room. The doctor immediately ordered a test
to determine the concentration of certain types of amino acids in her blood.
Question : In one paragraph explain the disorder that you think Thea suffers from and make sure
you address the following questions: Is it a genetic disorder? What types of amino acids did the
doctor ask the laboratory staff to test for? What protein/protein complex/signaling cascade is the
likely the culprit? How will Thea and her parents manage her disorder?
Solution
Thea will be probably affected by Maple Syrup Urine Disease (MSUD), a metabolic and genetic
disorder. BCKDHA, BCKDHB, DBT and DLD enzymes responsible for the production of
protein branched-chain alpha-keto acid dehydrogenase complex that controls the metabolism of
certain amino acids such as leucine, Isoleucine and valine. However, in certain cases, due to
genetic disorder, any one of the above enzymes was not able to function and preventing the
cleavage of above mentioned amino acids. So that it will be eliminated through urine and sweet
smell will be noticed due to the presence of amino acids. MSUD is lethal if not treated properly.
By providing the treatment such as liver transplant, providing the amino acid through
intravenous and property diet management will solve this symptom slowly.