Pediatric emergency medicine trisk 2430 2430

Test
Blood
CBC (plasma)

Laboratory abnormality Indications, comments
metabolic diseases a

Neutropenia (± vacuoles),
anemia, and/or
thrombocytopenia
Organic acidemias
Urea cycle defects
Carbohydrate
intolerance disorders
Carbohydrate
production/utilization
disorders
Lysosomal storage
disorders
Mitochondrial disorders
Glucose (serum)
Hypoglycemia
Aminoacidopathies
Organic acidemias
Fatty acid oxidation
defects
Carbohydrate
intolerance disorders
Carbohydrate
production/utilization
disorders

Mitochondrial disorders
Test of acid–base
Primary metabolic
status (serum)
acidosis
Electrolytes
Aminoacidopathies
Anion gap
Organic acidemias
pH (arterial or
Fatty acid oxidation
venous)
defects
Carbohydrate
intolerance disorders
Carbohydrate
production/utilization
disorders
Mitochondrial disorders
Primary respiratory
alkalosis
Urea cycle defects
Ammonia (plasma) Hyperammonemia
Aminoacidopathies
Organic acidemias
Urea cycle defects

Neutropenia may be masked by infection. Patients with
certain IEMs are at increased risk of infection;
infection can also precipitate metabolic crisis

Anemia hemolytic, megaloblastic, or normocytic,
depending on specific IEM

Hypoglycemia may be due to primary defect of
gluconeogenesis or glucose consumption that
exceeds production

Na+ , K+ , Cl− usually normal unless abnormal
secondary to vomiting, which may produce
hyperchloremic metabolic acidosis, or to
rhabdomyolysis, which may result in hyperkalemia
Normal bicarbonate does not rule out amino or organic
acidemias

Obtain if altered consciousness, persistent or recurrent
unexplained vomiting, recurrent dizziness or ataxia,
primary metabolic acidosis with increased anion gap,