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