Pocket Pediatrics: The Massachusetts General Hospital for Children Handbook of Pediatrics (Pocket Notebook Series), 2 Ed.


Critical Labs (Pediatrics 1998;102:E69; Vademecum Metabolicum 2004:4)

• Stat D-stick, CBC w/diff, chem 7, blood gas, NH3, lactate, plasma and urine amino acids, U/A, urine reducing substances, urine ketones, urine organic acids, ESR

• CRP, CK, ALT, AST, coagulation studies

• Store plasma samples for amino acids, acylcarnitine and filter paper (“Guthrie” card)

• If LP done → freeze CSF for further studies

• Consider ECG, echo, head imaging

Emergent Treatment (Pediatrics 1998;102:E69; Vademecum Metabolicum 2004:5)

• Obtain critical sample as above

• Start Rx before confirmed dx; stop protein, fat, galactose, and fructose intake

• Consult metabolic specialist

• 1st goal: Remove metabolites (organic acid intermediates or ammonia)

• Hyperammonemia: Immediate HD for coma, vent dependency, or cerebral edema

• Urea cycle defects: 6 cc/kg of 10% arginine HCL IV over 90 min

• Organic acidemia: Vit B12 (1 mg) IM for B12-responsive form of methylmalonic acidemia. Biotin (10 mg) PO or NGT for biotin-responsive carboxylase deficiency

• Acidosis: Give bicarb with frequent ABGs; severely acidotic: HD

• 2nd goal: Prevent catabolism

• IV glucose (calories & substitute for gluconeogenesis) → D10, 150 cc/kg/d w/ lytes

• Stop protein as above, IV lipids for urea cycle defects

• If unclear diagnosis: Continue glucose drip, review history

• Follow lytes, glucose, lactate, ABG, keep Na >135 to avoid cerebral edema

• http://newenglandconsortium.org/for-professionals/acute-illness-protocols