Inborn Errors of Metabolism

Inborn Errors of Metabolism 2

• Rare (1:5,000 - 1:100,000)
• Symptoms/Signs
• Feeding difficulties, FTT, vomiting, AMS, acidosis
• Lethargy, tachypnea, hypothermia, vomiting, Sz
• May mimic sepsis
  
• May be precipitated by changes in diet or infections
  
• Lab testing
• Plasma ammonia, plasma amino acids, urine organic acids
• ABG, CMP, UA, lactate, plasma acylcarnitines, newborn screen
• Management
• Infectious workup / Tox Screen
  
• Hydrate - D10 @ 1.5 times maintenance
• Accu-check (repeat this because they will drop)
• Acidotic (pH low) - Bicarb 1 mEq/kg
• Antibiotics if infected
  
• Ammonul
• 0-20kg: 2.5mL/kg IV bolus over 90 min followed by same dose as 24 hr infusion
• >20kg: 55 mL/m2 IV bolus over 90 min followed by same dose as 24 hr infusion
• Hemodialysis