Management of Mitochondrial Disease — Laboratory Studies — Clinical Pathway: Emergency Department and Inpatient

Mitochondrial Disease Clinical Pathway — Emergency Department and Inpatient

Laboratory Studies

  • The following labs identify metabolic derangement and organ involvement.
  • These results along with the VS and PE guide treatment.
  • Recheck gases, BMP, Mg, Ca, ammonia, CK and lactate as clinically indicated until improvement in patient symptoms and values.
  • Further testing as directed by Mitochondrial Medicine
  • When acutely ill, patients may have metabolic disturbances not seen while “well”.
  • Some patients will be referred in to get “sick labs” to document these abnormalities.
  • When possible, collect labs prior to fluid bolus as fluid may correct the abnormalities.
Labs Comments
POC Glucose, BOHB Hypoglycemia, hyperglycemia, acidosis, ketosis
VBG or
i-STAT with Lactate, i-Cal
  • Acidosis, elevated lactate
  • Respiratory insufficiency, hypocalcemia
CMP
  • Electrolyte disturbance, acidosis
  • Hyper- or hypoglycemia
  • Renal Failure
  • Liver failure
Magnesium, Calcium Hypocalcemia, Hypomagnesemia
Ammonia Hyperammonemia
CK Rhabdomyolysis
CBC Anemia, infection
POC Urine Infection, myoglobinuria
Total Glutathione
Blood, Urine Cultures As clinically indicated
CXR, ECG, BNP As clinically indicated
Additional Tests to Obtain, Results Available in 24-48 Hours
Urine Organic Acids Place urine bag
Plasma Amino Acids  
Acylcarnitine Profile (ACP)
Lactate, Pyruvate