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03/28/2024 11:53 AM
Pennsylvania House of Representatives
https://www.legis.state.pa.us/cfdocs/Legis/CSM/showMemoPublic.cfm?chamber=H&SPick=20170&cosponId=24993
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House of Representatives
Session of 2017 - 2018 Regular Session

MEMORANDUM

Posted: January 9, 2018 02:29 PM
From: Representative Dom Costa
To: All House members
Subject: Recognizing Individuals Living with Maple Syrup Urine Disease
 

In the near future, I will be introducing a resolution recognizing individuals living with maple syrup urine disease (MSUD) and raising awareness of the disease in Pennsylvania.

MSUD is an inherited disease in which the body is unable to process certain amino acids, causing a harmful buildup of substances in the blood and urine. MSUD occurs in approximately 1 in every 185,000 live births and is characterized by a distinctive sweet odor of the affected individual’s urine, reminiscent to maple syrup. Other symptoms of MSUD include lethargy, irritability and poor feeding. If left untreated, MSUD can result in progressive brain damage, coma and even death.

Families with a child suffering from MSUD can face significant difficulties finding treatment, due to the rarity and lack of awareness of this disease. Idario Santos and his family, who are residents of Pittsburgh, Pennsylvania, and constituents in my district, moved from Brazil in 2005 to receive treatment for his son’s diagnosis of MSUD. In an effort to bring awareness to MSUD and document the challenges he and other families have faced, Idario published a book, Sweet Odyssey, which chronicles the journey to find treatment for his son.

Please join me in co-sponsoring this important resolution.



Introduced as HR662