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Wednesday, Dec 03, 2008 | 12:21 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
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Biotinidase Deficiency
infantile multiple carboxylase deficiency, juvenile carboxylase deficiency, late-onset multiple carb
Biotinidase Deficiency (BD) is caused by the lack of an enzyme (biologically active protein) called biotinidase. Biotinidase functions to maintain normal levels of a protein called biotin. Biotin plays a critical role in preserving proper body metabolism which is the molecular activity within all the body tissues. Without treatment, this disorder can lead to seizures, developmental delay, eczema ...
Bladder Exstrophy
Exstrophy-Epispadias Complex
Classic bladder exstrophy is a congenital malformation in which the bladder is essentially opened flat and turned “inside out” so that the wall of the bladder is exposed to the outside of the abdomen. The skin, bones, and muscles overlying the bladder are improperly formed, such that the lower central abdomen is made up by the inner mucosal lining of the bladder. As a result, urine drains out on...
Bloom Syndrome
Bloom syndrome is a cancer-prone genetic disorder that is considered to be a “chromosome breakage” disease. Chromosomes are structures in each of the cells of our bodies that contain our genetic material, which makes us who we are. Individuals with Bloom syndrome have chromosomes that are more susceptible to breaking and rearranging which alters the normal genetic code.
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Budd-Chiari Syndrome
Budd-Chiari syndrome is a disease in which the flow of blood leaving the liver is blocked. The liver becomes enlarged because of congestion—blood is able to flow into the liver but is not able to leave. This leads to liver damage and can ultimately cause liver failure.
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Byler's Disease
Progressive Familial Intrahepatic Cholestasis
Byler’s Disease, which is now know as Progressive Familial Intrahepatic Cholestasis (PFIC), is a rare, inherited condition that mainly affects the liver and bile. Bile is made within the liver and is essential for the digestion and absorption of fats. Bile is transported from the liver to the small intestine through bile ducts. Children who suffer from PFIC are unable to drain bile from the liv...
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