A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Sunday, September 15, 2013

Mitochondrial Disease

This post is not designed to provide medical advice, just awareness.  If you have any questions or concerns, please contact your local physician.

What is Mitochondrial Disease?

Mitochondria exist in nearly every cell of the human body, producing 90 percent of the energy the body needs to function. In a person with mitochondrial disease, the mitochondria are failing and cannot convert food and oxygen into life-sustaining energy. For many, mitochondrial disease is an inherited genetic condition, while for others the body's mitochondria can be affected by other environmental factors.

Possible Symptoms of Mitochondrial Disease: (Think mitochondrial disease when three or more organ systems are involved)

•Developmental delays
•Neuro-psychiatric disturbances
•Autistic Features
•Intellectual or Cognitive delays
•Atypical cerebral palsy

•Weakness (may be intermittent)
•Absent reflexes
•Neuropathic pain
•Dysautonomia - temperature instability&
other dysautonomic problems

•Gastrointestinal problems
•Irritable bowel syndrome
•Muscle pain
•Gastroesophogeal reflux
•Diarrhea or constipation

•Renal tubular acidosis or wasting

•Cardiac conduction defects (heart blocks)

•Hypoglycemia (low blood sugar)
•Liver failure

Ears & Eyes
•Visual loss and blindness
•Optic atrophy
•Hearing loss and deafness
•Acquired strabismus
•Retinitis pigmentosa

Pancreas & other glands
•Diabetes and exocrine pancreatic failure
(inability to make digestive enzymes)
•Parathyroid failure (low calcium)

•Failure to gain weight
•Unexplained vomiting
•Short stature
•Respiratory problems


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