Mitochondrial Disorders
- Diseases involving oxidative metabolism, including fatty acid oxidation,
pyruvate metabolism, and defects of the respiratory chain
- Inheritance pattern differs, with nuclear DNA following mendelian
inheritance patterns and mitochondrial DNA following non-mendelian pattern
- Oxidative metabolism complexes may be derived from either nuclear or
mitochondrial DNA
- Mitochondrial DNA controls the respiratory chain
- Symptoms involve many systems and can include:
- apnea or other respiratory abnormalities
- cardiomyopathy
- hypotonia
- ophthalmoplegia
- ALTE
- myoclonic seizure
- paroxysmal vomiting
- sensorineural hearing loss
- thyroid disease
- migraine
- pancreatitis
- Specific disorders include:
- MELAS – myopathy, encephalopathy, lactic acidosis, and stroke-like
episodes
- Myoclonus epilepsy with ragged-red fibers (MERRF)
- Kearns-Sayre syndrome
- Leigh syndrome
- Treatment includes correcting the metabolic abnormalities, removing toxic
metabolites, and treating cardiac irregularities and other life-threatening
conditions
CHLA Board Review 2005