Diseases of Mitochondrial Inheritance Flashcards
When evaluating a patient for mitochondrial disease the first tier of testing should include:
- Chromosome microarray studies
- Plasma and urine amino acids
- Ammonia levels
- lactate and Pyruvate levels
- carnitine, plasma total and free
- Coenzyme Q10 level
- Urine organic acids
- plasma acylcarnitines
- Thyroid function
When evaluating a patient for mitochondrial disease the second tier of testing should include?
- mitochondrial enzyme and/or DNA testing
- Rett Syndrome DNA testing
- PTEN mutational analysis (also with macrocephaly)
- NLGN3, NLGN4X, SHANK3, SNRPN gene testing
- lysosomal enzyme testing
- peroxide disease testing
- CSF studies for lactate and pyruvate, amino acids and neurotransmitters
- Brain MRI
Before embarking on a mitochondrial evaluation make sure you screen for other disorders like:
- chromosome abnormalities
- Other inborn errors of metabolism
- other disorders that could explain the clinical presentation
What are two causes of mitochondrial energy disorders?
- alteration in gene
- toxic effect of external factors such as medication (ex. chemotherapy)
What are the 5 organ systems most affected by Mitochondrial diseases?
- CNS
- Muscle
- Cardiac
- GI including liver
- kidneys
What symptoms are seen in the brain with mitochondrial diseases?
- developmental delays
- migraines
- seizures
- demenia
- autistic features
- atypical cerebral palsy
- strokes
- mental retardation
What symptoms are seen in the nerves with mitochondrial diseases?
- absent reflexes
- fainting
- neuropathic pain
- weakness (may be intermittent)
- Dysautonomia (temperature instability
What symptoms are seen in the pancreas and other glands with mitochondrial diseases?
- diabetes and exocrine pancreatic failure
- parathyroid failure
What symptoms are seen in the muscles with mitochondrial diseases?
- weakness
- cramping
- hypotonia
- muscle pain
What symptoms are seen in the GI with mitochondrial diseases?
- pseudo-obstruction
- dysmotility
- irritable bowel syndrome
- gastroesophogeal reflux
- diarrhea or contsitpation
What symptoms are seen in the kidneys with mitochondrial diseases?
renal tubular acidosis or wasting
What symptoms are seen in the heart with mitochondrial diseases?
- cardiomyopathy
- cardiac conduction defects (heart blocks)
What symptoms are seen in the liver with mitochondrial diseases?
liver failure
hypoglycemia
What symptoms are seen in the ears & eyes with mitochondrial diseases?
- visual loss & blindness
- ptosis
- ophthalmoplegia
- optic atrophy
- hearing loss and deafness
- acquired strabismus
- retinitis pigmentosa
What symptoms are seen systemically with mitochondrial diseases?
- failure to gain weight
- chronic fatigue
- unexplained vomiting
- short stature
- respiratory problems