Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

Investigation of the Nature and Prevalence of Mitochondria Disease

The objective of this research protocol is to continue investigation of the nature and prevalence of mitochondria disease and to aid patients and health care providers in the understanding of these complex disorders.

This research study brings together many clinical sub-specialists to address the etiology of these disorders and to develop more effective approaches for their diagnoses and more reliable prognoses.

The non-invasive device named Diffuse Optical Spectroscopy developed at the Beckman Laser Institute is to be used to measure various physiological parameters. Since mitochondria produce most of the energy necessary for cellular function, their efficacy is most important for systems with a high energy demand like the brain, heart, skeletal muscle, kidney, liver, and endocrine tissues. As a result, mitochondria diseases usually manifest as complex, multi-organ disorders, requiring multispecialty investigations.

Inclusion Criteria:

• Male or female all ages group with diagnosis of mitochondrial disorder

Exclusion Criteria:

• Subjects with visual, auditory and/or neurological problems known to result from toxic or environmental effects