An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.
Elevated intracellular cystine +
Impaired cerebroside sulfate hydrolysis
Increased cellular sensitivity to UV light
Increased intracellular sodium
Increased oocyte death
Increased sensitivity to ionizing radiation
Intracellular accumulation of autofluorescent lipopigment storage material +