Metabolic emergencies (peds)

• Hypoglycemia (peds)

Inborn Errors of Metabolism

Background

• Clinical manifestations are due to accumulation of toxic metabolites
• Must rule-out sepsis (more common in these pts)

Diagnosis

• Encephalopathy
• Hypoglycemia
• Hepatic dysfunction
• Nonspecific complaints: lethargy, irritability, N/V

Work-Up

• Glucose level
• UA (ketones)
• Chemistry
  • Anion gap a/w organic acidemias
• LFT
• Ammonia
  • Should be <200 in normal neonate (higher suggests urea cycle disorders)
• Lactate
• VBG

Treatment

1. NS 20 mL/kg boluses
   1. Increase renal excretion of toxic metabolites
2. Keep NPO
   1. Removes potential inciting metabolic substrates
   2. Provide D10 at 2x usual maintenance rates
3. Hyperammonemia
   1. <500
      1. (Na phenylacetate & Na benzoate) 250mg/kg in D10 over 90min; then 250 mg/kg/d infusion
      2. Arginine 210mg/kg IV/IO in D10 over 90min; then 210 mg/kg/d infusion
   2. >600
      1. Dialysis
4. Cerebral edema
   1. Hyperammonemia is risk factor
      1. Give mannitol 0.5gm/kg IV/IO
      2. Do not give steroids (worsens hyperammonemia)

See Also

• Hypoglycemia (Peds)
• Adrenal Insufficiency

Source

Tintinalli

Kwon KT, Tsai VW. Metabolic emergencies. Emerg Med Clin N Am. 2007;25:1041-1060.