Mitochondrial Disease Types

Autosomal Dominant Optic Atrophy

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

Alpers Disease Long name: Progressive Infantile Poliodystrophy Symptoms: Seizures, dementia, spasticity, blindness, liver dysfunction, and...

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,...