IEM category Laboratory abnormalities Abnormalities to treat emergently (see Table 95.7 for specifics) a Aminoacidopathies Hypoglycemia Metabolic acidosis ± Increased anion gap ± Elevated lactate Elevated transaminases Ketonuria Neutropenia, anemia thrombocytopenia ± Hypoglycemia Metabolic acidosis Increased anion gap ± Elevated lactate ± Hyperammonemia Elevated transaminases Ketosis, ketonuria Myoglobinuria Hyperammonemia with respiratory alkalosis Metabolic acidosis Hypoketotic hypoglycemia ± Elevated transaminases ± Hyperammonemia ± Elevated transaminases Hypoglycemia Acidosis Hypoglycemia Hyperchloremic metabolic acidosis Direct hyperbilirubinemia Urinary-reducing substances Acidosis Hypoglycemia Metabolic acidosis ± Increased anion gap ± Increased lactate, pyruvate ± Hyperammonemia ± Elevated transaminases Acidosis Organic acidemias Urea cycle defects, disorders of ammonia detoxification Fatty acid oxidation defects — Disorders of carbohydrate intolerance Disorders of carbohydrate production/utilization Hyperuricemia Ketonuria Hypoglycemia Acidosis Hyperammonemia Hyperammonemia Hypoglycemia Acidosis Hypoglycemia Hypoglycemia