Fabry disease is a rare hereditary disease, and one of a group of more than 40 disorders called lysosomal storage diseases. Lysosomes are a part of the cell in which particular waste products are broken down into.
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Gaucher disease is a rare inherited disorder that affects specific cells and organs in the body. The areas most affected include the spleen, liver, and bones, as well as the central nervous system...
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One of several types of angioedema, hereditary angioedema (HAE) is a rare genetic disease characterized by recurrent sudden attacks of edema, or swelling, of the skin (including the hands, arms, feet, legs.....
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Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body’s ability to break down and recycle specific mucopolysaccharides, also known.....
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Metachromatic leukodystrophy (met-a-kro-mat-tik loo-ko-dis-tro-fee), or MLD, is an inherited disorder that causes fatty substances, also called lipids, to accumulate in key cells throughout the body...
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Sanfilippo A syndrome, also known as mucopolysaccharidosis IIIA (MPS IIIA), is a rare genetic disease that affects many body systems and may lead to behavioral problems, deterioration in mental development, and damage...
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