• 2/3’s present in the neonatal period and can mimic conditions such as sepsis, gastroenteritis, and meningitis requiring careful consideration to prompt testing
• Common symptoms are poor feeding, lethargy, irritability, vomiting, and encephalopathy
• May be referred in if detected on newborn screen, but not all are tested on the newborn screen
• Should look on labs for acidosis, elevated anion gap, hyperammonemia, lactic acidosis, ketosis/ketonuria, and hyper/hypoglycemia  
• Emergent treatment includes: identification and treatment of any underlying triggers (such as infection), stopping any protein intake until situation can be clarified, providing fluids with glucose (requirements of 8-10 mg/kg/min of glucose in neonates), and genetics consultation

 

References

Laura L. Guilder, Jonathan B. Kronick; Organic Acidemias. Pediatr Rev March 2022; 43 (3): 123–134.