Pediatric emergency medicine trisk 2416 2416
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CHAPTER 95 ■ METABOLIC EMERGENCIES
BRET L. BOSTWICK, JUSTIN R. DAVIS
GOALS OF EMERGENCY THERAPY
Recognition and understanding of inborn errors of metabolism (IEMs) in the acutely ill child in the
emergency department (ED) is critical for appropriate, and possibly lifesaving management. Individually,
metabolic diseases are rare, but collectively are common with the incidence approaching 1 in every 800
to 2,500 newborns. Goals of emergency care are to consider the possibility of IEM in the differential
diagnosis of acutely ill, previously undiagnosed patients, and to identify, treat, and prevent acute
metabolic derangements in patients with suspected or known IEMs, including the asymptomatic neonate
with a positive newborn screening (NBS).
KEY POINTS
IEMs usually manifest in the neonatal period or infancy but can present at any age, even
during adulthood.
Newborn screening (NBS) results may not be available in the first days to weeks of life: false
negatives and false positives occur.
ED care does not require an extensive knowledge of individual metabolic diseases or
biochemical pathways, but rather an understanding of the pathophysiology of categories of
IEMs.
High index of suspicion is the most important element in making the diagnosis of metabolic
disease. Initial laboratory evaluation should include CBC, blood gas, glucose, ammonia,
chemistries, uric acid, liver function studies, and urinalysis.
Successful emergency treatment of suspected and known IEMs depends on prompt
institution of therapy to correct and prevent further metabolic derangement and is critical to
prevent acute and long-term morbidity and mortality.
Specialists with expertise in inborn errors of metabolism should be consulted to guide
diagnosis and management, and consideration should be given to consultation even if this
requires referral outside of your facility.
UNKNOWN SUSPECTED IEM
Goals of Treatment
Recognizing the possibility of an IEM is critical for optimal management of the child with unknown
IEM. Immediate goals of treatment are to stabilize cardiopulmonary function, correct metabolic
derangements, and avoid intake and/or endogenous production of potentially toxic substances. Early
consultation with an IEM specialist, including prior to transport of a child being transported from an
outside facility, is advised to guide treatment and collection of appropriate specimens for diagnosis.
CLINICAL PEARLS AND PITFALLS
