Latest about rare diseases
'Fish odor syndrome': A rare metabolic condition that makes sweat smell like rotten fish
Patients with trimethylaminuria, or "fish odor syndrome," make too much of a chemical with a strong fishy smell.
What is babesiosis? The parasitic infection that 'eats' your red blood cells
Most people exposed to the parasites behind babesiosis don't get sick, but for others, the infection can be deadly.
POLG diseases: Rare genetic conditions that starve cells of energy and afflicted the late Prince of Luxembourg
POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.
The rare genetic disorder that causes severe itchiness and liver failure
Patients with PFIC develop liver failure as a result of a buildup of a digestive fluid known as bile.
The deadly 'black fungus' infection that decimates flesh
Most people are exposed to the fungi that cause mucormycosis regularly, but in certain individuals, these microbes can cause a potentially deadly infection.
Norrie disease: The rare genetic disorder that makes people go blind and deaf
Only around 500 cases of Norrie disease, a genetic condition, have been reported worldwide.
People with this rare genetic condition can't repair damage to their DNA
LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged DNA.
What is alkaptonuria? The rare disease that turns your pee black
Alkaptonuria is an unusual disorder caused by a defect in protein metabolism.
