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June 2012, Volume 42 Number 6 , p 51 - 56


  • Gail Reiner DNP, MS, MA, FNP-c
  • Jan Panyard-Davis RN


"MW" AND HIS TWIN SISTER were delivered by cesarean section at 37weeks of gestation. Because they required only a short stay in the neonatal unit, no one would've guessed the challenges that lay ahead forMW.We work at the Mitochondrial and Metabolic Disease Center at the University of California-San Diego (UCSD). A pediatric physician referred MW, then age 31/2 years, to our center after recognizing the significance of the multiple signs and symptoms that accompanied MW's autism. These included hypotonic muscles, fatigue, exercise intolerance, vision and hearing defects, celiac disease, and seizures. At our center, a metabolic physician performed a muscle biopsy, which demonstrated complex I deficiency, one of the most common mitochondrial diseases. Most people are becoming familiar with autism spectrum disorders, but few know that at least 8% of these patients have mitochondrial disease as well.1Patients with mitochondrial diseases can have a wide range of signs and symptoms that are most often caused by problems in the mitochondrial respiratory chain that's involved in processing nutrients into usable energy by cells. This group of disorders involving oxidative phosphorylation includes multisystemic illnesses with various combinations of skeletal muscle and/or central nervous system disorders. Many affected people have serious disabilities.2Very few healthcare providers are familiar with mitochondrial diseases, although more evidence is showing that these are some of the most common genetic metabolic diseases.2 The incidence of mitochondrial disease is difficult to estimate because diagnosis is often delayed, but the lifetime incidence of genetic mitochondrial disease is estimated to be 1 in 2,000.3 In a recent study of neonatal cord blood from 3,148 live births, 1 of 10 common mitochondrial DNA (mtDNA) mutations were found in 1 in 200 patients.4This article presents an overview of mitochondrial diseases, the testing needed to reach a diagnosis, and the management

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