Autosomal Dominant Optic Atrophy
ADOA – Autosomal Dominant Optic Atrophy ADOA – Autosomal Dominant Optic Atrophy –...
Read moreLatest News -Mitochondrial Disease Types
Alpers Disease or Syndrome
Alpers Disease or Syndrome Long name: Progressive Infantile Poliodystrophy Symptoms: Seizures, dementia, spasticity, blindness, liver...
Read moreBarth Syndrome
Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy) Symptoms: Skeletal myopathy, cardiomyopathy, short stature, and neutropenia Cause:...
Read moreBeta-Oxidation Defects
Beta-oxidation Defects See LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD Treatment: High carbohydrate-low fat diet, administration of medium-chain...
Read moreCarnitine-Acyl-Carnitine Deficiency
Carnitine-Acyl-Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin...
Read moreCarnitine Deficiency
Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine,...
Read moreComplex II Deficiency
Complex II Deficiency Long Name: Succinate dehydrogenase deficiency Symptoms: Encephalomyopathy and various manifestations, including failure...
Read moreComplex III Deficiency
Complex III Deficiency Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency Symptoms: Four major forms: Fatal infantile...
Read moreComplex IV Deficiency / COX Deficiency
Complex IV Deficiency / COX Deficiency Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain....
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