Pediatric emergency medicine trisk 2444 2444

CLINICAL PEARLS AND PITFALLS
Acute decompensations are most commonly seen with tyrosinemia, organic acidemias, urea
cycle defects, fatty acid oxidation defects, and galactosemia.
Early recognition of acute metabolic decompensation is critical for effective management of
patients with known IEM.
A history of physiologic stress, such as intercurrent illness or recent surgery, or
noncompliance with diet may precipitate symptoms and warrants preventative management.

Current Understanding
Manifestations of IEM are disease specific but also patient specific. Understanding of these specifics, as
well as advances in treatment, will most expeditiously and effectively guide evaluation and management.

Clinical Considerations
Triage
Patients with known IEM associated with potential for acute life-threatening decompensation should be
triaged expeditiously. Many families have treatment pathways in hand (or delineated in EMR) to
optimize care ( Table 95.8 ).

AMINO ACID DISORDERS
Goals of Treatment
Treatment of children with amino acid disorders includes avoiding dietary intake of the offending amino
acid(s), and correcting acute metabolic and physiologic derangements.

Current Understanding
Most amino acid disorders do not cause acute decompensation. A notable exception is tyrosinemia type I,
a disorder of phenylalanine and tyrosine metabolism that initially causes liver failure and later
hepatocellular carcinoma. It usually presents in early infancy but can present in the neonatal period.

Clinical Considerations
Assessment
Clinical features include lethargy, vomiting, diarrhea, failure to thrive, hypoglycemia, jaundice, ascites,

edema, bleeding, and renal tubular acidosis. Patients, particularly neonates, may have sepsis. Infants and
children, in addition to manifestations seen in the neonate, may have hepatosplenomegaly, rickets,
hypotonia, and neurologic deficit. CBC, electrolytes, glucose, phosphate, calcium, albumin, PT, PTT, and
blood gas should be obtained upon presentation for illness. As clinically indicated, cultures and lactate to
evaluate for sepsis should be sent.
Management
To treat dehydration, normal saline bolus(es), 10 mL/kg for neonates and 20 mL/kg for infants and
children should be administered. If the patient is hypoglycemic a bolus of 0.25 to 1 g/kg as D10 for
neonates and D10 or D25 for infants and children should be given. After administration of bolus fluid and
correction of any hypoglycemia, D10 in ½ normal saline should be continued at 1 to 1.5 times
maintenance to maintain serum glucose levels at 120 to 170/mg/dL. Insulin is sometimes required to
prevent catabolism in which case additional dextrose is often required. Stable patients without
decompensation and able to feed must avoid offending amino acids. Formula brought by the family may
need to be used until the appropriate formula can be obtained for the patient within the hospital.