Latest News -Mitochondrial Disease Types

ADOA – Autosomal Dominant Optic Atrophy ADOA – Autosomal Dominant Optic Atrophy –...

What is Alpers syndrome? Alpers syndrome is a mitochondrial disease that primarily affects the brain, vision, muscles, and liver. It goes by...

Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy) Symptoms: Skeletal myopathy, cardiomyopathy, short stature, and neutropenia Cause:...

Beta-oxidation Defects See LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD Treatment: High carbohydrate-low fat diet, administration of medium-chain...

Carnitine-Acyl-Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin...

Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine,...

Complex II Deficiency Long Name: Succinate dehydrogenase deficiency Symptoms: Encephalomyopathy and various manifestations, including failure...

Complex III Deficiency Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency Symptoms: Four major forms:  Fatal infantile...

Complex IV Deficiency / COX Deficiency Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain....