Mitochondrial Disorders

“Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.” ~


BrainDevelopmental delaysDementia 

Neuro-psychiatric disturbances


Autistic Features

Mental retardation


Atypical cerebral palsy 


MusclesWeakness Cramping

Gastrointestinal problems


Irritable bowel syndrome


Muscle Pain

Gastroesophogeal reflux

Dirrahea or constipation


NervesWeakness (may be intermittent) Absent reflexes 


Neuropathic pain

Dysautonomia – temperature instability

& other dysautonomic problems

Ears & EyesVisual loss and blindnessPtosis


Optic atrophy

Hearing loss and deafness

Acquired strabismus

Retinitis pigmentosa

KidneysRenal tubular acidosis or wasting Pancreas & other glands 

Diabetes and exocrine pancreatic failure 

(inability to make digestive enzymes) 

Parathyroid failure (low calcium)

LiverHypoglycemia (low blood sugar)Liver failure SystemicFailure to gain weightFatigue

Unexplained vomiting

Short stature

Respiratory problems



Listed below are the different types of mito diseases. 

  • Alpers Disease– Symptoms: seizures, dementia, spasticity, blindness, liver dysfunction, and cerebral degeneration.
  • Barth syndrome– Symptoms: skeletal myopathy, cardiomyopathy, short stature, and neutropenia.
  • Beta-oxidation Defects (LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD)
  • Carnitine-Acyl-Carnitine Deficiency– Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting.
  • Carnitine Deficiency– Symptoms: Cardiomyopathy, failure to thrive, and altered consciousness or coma, sometimes hypotonia
  • Co-Enzyme Q10 Deficiency– Symptoms: Encephalomyopathy, mental retardation, exercise intolerance, ragged-red fibers, and recurrent myoglobin in the urine.
  • Complex I Deficiency
  • Complex II Deficiency– Symptoms: Encephalomyopathy and various manifestations, including failure to thrive, developmental delay, hyoptonia, lethargy, respiratory failure, ataxia, myoclonus. Lactic acidosis common.
  • Complex III Deficiency
  • Complex IV DeficiencyCOX Deficiency
  • Complex V Deficiency– Symptoms: Slow, progressive myopathy.
  • CPEO-  Symptoms: Similar to those of KSS plus: visual myopathy, retinitis pigmentosa, dysfunction of the central nervous system.
  • CPT I Deficiency– Symptoms: Enlarged liver and recurrent Reye-like episodes triggered by fasting or illnesses.
  • CPT II Deficiency- Symptoms – Myopathic: Exercise intolerance, fasting intolerance, muscle pain, muscle stiffness, and myoglobin in the urine. Symptoms – Infantile: Reye-like syndrome, enlarged liver, hypoglycemia, enlarged heart, and cardiac arrhythmia.
  • Glutaric Aciduria Type II
  • KSS
  • Lactic Acidosis
  • LCAD– Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to thrive, enlarged liver, enlarged heart, metabolic encephalopathy, and hypotonia.
  • LCHAD– Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy.
  • Leigh Disease or Syndrome– Symptoms: Seizures, hypotonia, fatigue, nystagmus, poor reflexes, eating & swallowing difficulties, breathing problems, poor motor function, ataxia.
  • LHON
  • LIC (Lethal Infantile Cardiomyopathy)
  • Luft Disease
  • MAD
  • MCAD
  • Mitochondrial Cytopathy
  • Mitochondrial DNA Depletion
  • Mitochondrial Encephalopathy
  • Mitochondrial Myopathy
  • NARP
  • Pearson Syndrome
  • Pyruvate Carboxylase Deficiency
  • Pyruvate Dehydrogenase Deficiency
  • Respiratory Chain
  • SCAD

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One Comment

  1. Mona
    Aug 27, 2014 @ 12:58:05

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