Assessment and management during illness

1. Assess mental status, and vital signs
2. Assess ability to maintain oral or G-tube intake
3. If unable to maintain 1.5-2X maintenance (accounting for both the amount of fluid loss and general catabolism) or if there are abnormal laboratory parameters, recommend IV therapy
   • IV fluids should contain dextrose (D5, D10 or D15)
   • With a very high dextrose delivery, IV insulin should be provided in an ICU setting as an anabolic metabolic signal and to maintain normoglycemia
   • If IV therapy is regularly considered, assess ability and safety of providing home-nursing based IV fluids
4. Assess cardiac and renal status
5. Fever control and consideration of antibiotic use; limit frequent acetaminophen use to limit hepatic oxidative stress
6. Medication, anesthesia, surgical and fasting precautions as outlined in text
7. Initial labs
   • Urinalysis
   • Electrolytes
   • BUN/creatinine
   • Glucose
   • Liver transaminases
   • Amylase/lipase
   • Blood lactate
   • Ammonia
   • CBC with differential
   • Ketones in blood (beta-hydroxybutyrate and acetoacetate) and urine (dipstick)
   • Creatine kinase
   • Consider checking blood pH
8. In a patient without a firm diagnosis, also consider obtaining the following
   • Amino acids, plasma
   • Acylcarnitine profile, plasma
   • Organic acids, urine
   • Lactate and Pyruvate, plasma
9. Subsequent labs
   • Repeat any laboratories that have abnormalities every 6-12 hours for mild discrepancies or more frequently for severe abnormalities
   • Reassess electrolytes daily if in hospital or based on clinical course if treating as an outpatient

Patients with mitochondrial disorders suffer from the same illnesses as other patients. Therefore the differential diagnosis should be developed based on the clinical presentation, and not solely with special attention to the mitochondrial diagnosis.

The above recommendations specifically pertain to mitochondrial respiratory chain disorders. There are certain instances where glucose administration may worsen acidosis, including pyruvate dehydrogenase deficiency, where glucose delivery must be reduced or limited.