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 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 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 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