PRINTER'S NO. 2944
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No.
662
Session of
2018
INTRODUCED BY D. COSTA, HENNESSEY, RYAN, NEILSON, READSHAW,
THOMAS, TOEPEL, KINSEY, BERNSTINE, MURT, CALTAGIRONE,
SCHWEYER, J. McNEILL, WARD, MILLARD, DiGIROLAMO, JOZWIAK AND
ZIMMERMAN, JANUARY 29, 2018
INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35,
JANUARY 29, 2018
A RESOLUTION
Recognizing individuals living with maple syrup urine disease
and raising awareness of the disease in Pennsylvania.
WHEREAS, Maple syrup urine disease (MSUD), also called
branched-chain ketoaciduria, 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; and
WHEREAS, MSUD is characterized by a distinctive sweet odor of
the affected individual's urine, which is reminiscent of maple
syrup; and
WHEREAS, Symptoms usually appear within the first few days or
weeks after birth and may include lethargy, irritability and
poor feeding; and
WHEREAS, MSUD can lead to more severe symptoms, including
progressive brain damage, coma and even death; and
WHEREAS, MSUD takes five distinct clinical variants,
including classic MSUD, intermediate MSUD, intermittent MSUD,
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thiamine-responsive MSUD and E3-deficient MSUD with lactic
acidosis, which can be distinguished by age of onset, severity
of clinical symptoms and response to treatment; and
WHEREAS, Worldwide, MSUD occurs in approximately 1 in every
185,000 live births, with a high percentage of cases occurring
in the Amish and Mennonite communities of central Pennsylvania;
and
WHEREAS, MSUD is identified in infants through newborn
screening programs; and
WHEREAS, A diagnosis may also be made based upon symptomatic
findings, urine analysis or blood analysis; and
WHEREAS, MSUD can be managed through a lifelong adherence to
a protein-restricted diet and medical intervention for treatment
of metabolic crisis, including dialysis or hemofiltration; and
WHEREAS, Families with a child suffering from MSUD can face
substantial difficulties finding treatment due to the rarity and
lack of awareness of the disease; and
WHEREAS, Idario Santos and his family, who are residents of
Pittsburgh, Pennsylvania, moved from Brazil in 2005 for Idario's
son Artur to receive treatment for his life-threatening
diagnosis of MSUD; and
WHEREAS, To bring awareness to MSUD and document the
difficulties that Idario's family and so many others with the
disease have encountered, Idario chronicled the journey to find
treatment for his son's diagnosis of MSUD in his book Sweet
Odyssey; and
WHEREAS, The importance of an early diagnosis of MSUD and the
correct treatment practices can greatly reduce a child's risk of
serious complications that may arise from this disease;
therefore be it
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RESOLVED, That the House of Representatives recognize
individuals living with maple syrup urine disease and raise
awareness of the disease in Pennsylvania; and be it further
RESOLVED, That the House of Representatives support efforts
to diagnose children with MSUD at an early age and promote
initiatives to bring awareness to this life-threatening disease.
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