Meet the Stewarts: The Story Behind the Gift of Energy
The holidays are meant to be spent at home with family, building memories and traditions. For many of our families, the holidays are spent in...
Read moreLatest News
Meet Traci Medford-Rosow
Author Donates Royalties from Book about LHON Patient It was by coincidence that that Traci Medford-Rosow met the subject of her latest book. ...
Read moreAutosomal Dominant Optic Atrophy
ADOA – Autosomal Dominant Optic Atrophy ADOA – Autosomal Dominant Optic Atrophy –...
Read moreBarth Syndrome
What is Barth syndrome? Barth syndrome (BTHS) is an X-linked, multisystem mitochondrial disease, also referred to as 3-Methylglutaconic...
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 more