Definition
A group of diseases that are the result of failures of the mitochondria, cell organelles of rod or oval shape which contain the enzymes for the aerobic stages or cell respiration and thus are the sites of most ATP synthesis. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. Diseases of the mitochondria most commonly affect children (though adult onset is increasingly common), and seem to cause most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Depending on the cells affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders, swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
URL Name
YF-3000-5080
Third Level Code
YF-3000
Taxonomy Code
YF-3000.5080
Parent Code
YF-3000
Family Code
Y
Second Level Code
YF
Fourth Level Code
YF-3000-5080
Use References
KSS, Lactic Acidosis, LCAD, LCHAD, Leigh Disease/Syndrome, Lethal Infantile Cardiomyopathy, LHON, LIC, Luft Disease, MAD, MCAD, MELAS, MERRF, Mitochondrial Cytopathy, Mitochondrial DNA Depletion, Mitochondrial Encephalopathy, Mitochondrial Myopathy, MNGIE, NARP, Pearson Syndrome, Pyruvate Carboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Respiratory Chain, SCAD, SCHAD, VLCAD, Alpers Disease, Barth Syndrome, Beta-Oxidation Defects, Carnitine-Acyl-Carnitine Deficiency, Co-Enzyme Q10 Deficiency, Complex I Deficiency, Complex II Deficiency, Complex III Deficiency, Complex IV Deficiency, Complex V Deficiency, COX Deficiency, CPEO, CPT I Deficiency, CPT II Deficiency, Glutaric Aciduria Type II
Publication Status
Online