Symptoms of Mitochondrial Cytopathies

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Symptoms of Mitochondrial Cytopathies

The complex cellular specialization of mitochondria leads to a dizzying array of signs and symptoms that physicians at specialized referral centers have come to recognize as characteristic of mitochondrial disease. Symptoms may be totally absent in healthy patients who are silent carriers, or range from clumsiness, to migraines, seizures, diabetes, cancer or catastrophic metabolic disease. Many combinations of symptoms are possible. Even physicians working in highly specialized referral centers who see hundreds of cases of mitochondrial disease every year are struck by the great diversity of signs and symptoms. (Adapted from the "Unexpected Presentations of Mitochondrial Disease" section of Robert Naviaux's "Overview, the Spectrum of Mitochondrial Disease" in the Mitochondrial and Metabolic Disorders, Primary Care Physician's Guide, second edition)

Problems Associated with Mitochondrial Cytopathies

Organ System	Possible Problems
Brain	Developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes.
Nerves	Weakness (which may be intermittent), neuropathic pain, absent reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems.
Muscles	Weakness, hypotonia, cramping, muscle pain.
Kidneys	Proximal renal tubular wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.
Heart	Cardiac conduction defects (heart blocks), cardiomyopathy.
Liver	Hypoglycemia (low blood sugar), liver failure
Eyes	Visual loss and blindness
Ears	Hearing loss and deafness
Pancreas	Diabetes and exocrine pancreatic failure (inability to make digestive enzymes).
Systemic	Failure to gain weight, short statue, fatigue, respiratory problems including intermittent air hunger.

Rules of Thumb - Think mitochondria when

A "common disease" has atypical features that set it apart from the pack
Three or more organ systems are involved
Recurrent setbacks or flare ups in a chronic disease occur with infections

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