Harris-Haman Pamela, Brown Lenora, Massey Susan, Ramamoorthy Sivaranjani
Nurs Womens Health. 2017 Jun-Jul;21(3):196-206. doi: 10.1016/j.nwh.2017.04.009.
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.
枫糖尿症（MSUD）是一种遗传性代谢紊乱疾病，会影响人体代谢氨基酸的能力。如果不进行治疗，会使新生儿面临危及生命的健康问题，包括称为代谢危机的疾病发作。MSUD的新生儿筛查理想情况下应在出生后的头24至48小时内进行。通过适当的筛查，以及遗传咨询、营养咨询、初级保健随访和持续监测，患有MSUD的新生儿通常可以过上健康的生活。护士在支持被诊断患有MSUD的家庭方面发挥着关键作用。
