Primary mitochondrial disorders (PMDs) comprise a group of hundreds of individual genetic diseases affecting mitochondrial function, including oxidative phosphorylation and energy production. The estimated prevalence of these disorders ranges from 2.9 to 20 cases per 100,000. PMDs are commonly associated with malnutrition and growth failure. There is a paucity of literature regarding nutrition assessment and long-term data in the PMD population. We present three patients with various PMDs who presented complications related to malnutrition: (1) a 16-year-old male with Kearns-Sayre syndrome developed type 2 insulin-requiring diabetes mellitus after the initiation of high-calorie nutrition rehabilitation via gastrostomy tube (G-tube); (2) an 11-year-old female with myoclonic epilepsy associated with ragged red fibers developed diarrhea with metabolic decompensation and profound neurological and respiratory deterioration during nutrition rehabilitation after surgical G-tube placement; and (3) a 19-year-old male with a WARS2-associated PMD manifesting with developmental delay and severe parkinsonism presented complications related to poor wound healing after gastrojejunostomy tube placement. The last patient required prolonged hospitalization in the intensive care unit. Clinicians should be vigilant in monitoring these possible complications, as no standards of care exist for the initiation of enteral nutrition for this unique population.
Keywords: enteral nutrition; inborn genetic diseases; mitochondrial diseases; nutrition support.
© 2021 American Society for Parenteral and Enteral Nutrition.