case study

799 Words2 Pages

Maple Syrup Urine Disease
An Amish family was concerned about a newborn boy that began to eat poorly 5 days after birth and was not gaining weight. The infant made repetitious gestures resembling the movements of fencing or bicycling. The baby’s urine has a characteristic maple syrup odor. The family had three other infants, all of whom died of an undiagnosed metabolic disorder within three months of birth. All three infants had urine that smelled distinctly of burned sugar. The baby’s diagnosis is maple syrup disorder,

Maple syrup urine disease is an inherited disorder. This disease is usually found in newborns twenty four hours after they are born. Symptoms include lethargy which is lack of energy, seizures, vomiting, coma, loss of appetite, fussiness, mental and physical retardation, hypotonia when the muscles stiffen, weight loss, and urine that smells like maple syrup. Even though this disease is usually found in newborn babies, it can also occur in later infancy or childhood. When a baby is born they run a test on a sample of blood to see if the baby has MSUD. There can be three types of MSUD. The most common type is Classic MSUD the baby starts to develop some symptoms 4-7 days after they are born. Intermediate MSUD can be found in older babies, 10 months or older the symptoms are growth and mental development delay. Intermittent MSUD in this type the babies usually show no symptoms until they are older. The patients can have episodic ataxia which is when they lose control of their body movements, and lack of energy. Although they are very similar the severity is not as well as the treatment.

This disease is mainly caused by the mutation of a gene which causes a mutation in the BCKD (branched-chain alpha-ketoacid dehy...

... middle of paper ...

...icles/view/67217>.
Handelman, Chad. "Maple Syrup Urine Disease." NY Times. N.p., n.d. Web.
"Maple Syrup Urine Disease." - Genetics Home Reference. N.p., n.d. Web. 21 Nov. 2013. .
"Maple Syrup Urine Disease (MSUD) - Jewish Genetic Disease." Maple Syrup Urine Disease (MSUD) - Jewish Genetic Disease. N.p., n.d. Web. 21 Nov. 2013. .
"MAPLE SYRUP URINE DISEASE (MSUD)." Maple Syrup Urine Disease (MSUD). N.p., n.d. Web. 21 Nov. 2013. .
"OMIM Entry - # 248600 - MAPLE SYRUP URINE DISEASE; MSUD." OMIM Entry - # 248600 - MAPLE SYRUP URINE DISEASE; MSUD. N.p., n.d. Web. 21 Nov. 2013. .

More about case study

Open Document