Rare diseases — Medical conditions you may never have heard of before
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'Fish odor syndrome': A rare metabolic condition that makes sweat smell like rotten fishPatients with trimethylaminuria, or "fish odor syndrome," make too much of a chemical with a strong fishy smell.
By Emily Cooke Published
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What is babesiosis? The parasitic infection that 'eats' your red blood cellsMost people exposed to the parasites behind babesiosis don't get sick, but for others, the infection can be deadly.
By Emily Cooke Published
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POLG diseases: Rare genetic conditions that starve cells of energy and afflicted the late Prince of LuxembourgPOLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.
By Emily Cooke Published
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The rare genetic disorder that causes severe itchiness and liver failurePatients with PFIC develop liver failure as a result of a buildup of a digestive fluid known as bile.
By Emily Cooke Published
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The deadly 'black fungus' infection that decimates fleshMost people are exposed to the fungi that cause mucormycosis regularly, but in certain individuals, these microbes can cause a potentially deadly infection.
By Emily Cooke Published
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Norrie disease: The rare genetic disorder that makes people go blind and deafOnly around 500 cases of Norrie disease, a genetic condition, have been reported worldwide.
By Emily Cooke Published
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People with this rare genetic condition can't repair damage to their DNALIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged DNA.
By Emily Cooke Published
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What is alkaptonuria? The rare disease that turns your pee blackAlkaptonuria is an unusual disorder caused by a defect in protein metabolism.
By Emily Cooke Published
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What is Capnocytophaga? How an innocent dog lick can trigger a fatal infectionCapnocytophaga infections in humans are rare, especially in historically healthy individuals, but when it occurs, the disease can be deadly.
By Emily Cooke Published
