TY - JOUR
T1 - Implications of Maple Syrup Urine Disease in Newborns
AU - Harris-Haman, Pamela
AU - Brown, Lenora
AU - Massey, Susan
AU - Ramamoorthy, Sivaranjani
N1 - Publisher Copyright:
© 2017 AWHONN
PY - 2017/6
Y1 - 2017/6
N2 - Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body's ability to metabolize amino acids. If left untreated, it places newborns at risk for life-threatening health problems, including episodes of illness called metabolic crisis. Newborn screening for MSUD should ideally be done within the first 24 to 48 hours after birth. With proper screening, along with genetic counseling, nutritional counseling, primary care follow-up, and ongoing monitoring, newborns with MSUD can typically go on to live healthful lives. Nurses play a key role in supporting families with a diagnosis of MSUD.
AB - Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body's ability to metabolize amino acids. If left untreated, it places newborns at risk for life-threatening health problems, including episodes of illness called metabolic crisis. Newborn screening for MSUD should ideally be done within the first 24 to 48 hours after birth. With proper screening, along with genetic counseling, nutritional counseling, primary care follow-up, and ongoing monitoring, newborns with MSUD can typically go on to live healthful lives. Nurses play a key role in supporting families with a diagnosis of MSUD.
KW - genetic testing
KW - maple syrup urine disease
KW - metabolic disorders
KW - newborn screening
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U2 - 10.1016/j.nwh.2017.04.009
DO - 10.1016/j.nwh.2017.04.009
M3 - Article
C2 - 28599741
AN - SCOPUS:85020300776
SN - 1751-4851
VL - 21
SP - 196
EP - 206
JO - Nursing for Women's Health
JF - Nursing for Women's Health
IS - 3
ER -