Implications of Maple Syrup Urine Disease in Newborns

Pamela Harris-Haman, Lenora Brown, Susan Massey, Sivaranjani Ramamoorthy

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)196-206
Number of pages11
JournalNursing for Women's Health
Volume21
Issue number3
DOIs
StatePublished - Jun 1 2017
Externally publishedYes

Keywords

  • genetic testing
  • maple syrup urine disease
  • metabolic disorders
  • newborn screening

ASJC Scopus subject areas

  • Nursing(all)

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