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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



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