Fabry disease is a rare hereditary disease that is characterized by heart, kidney and central nervous system problems as well
as acroparesthesia, angiokeratoma, heat intolerance, fatigue, and frequent stomach upset including cramping, diarrhea, and
nausea. It is caused by a defect in the lysosomal enzyme alpha-galactosidase A, which normally breaks down
globotriaosylceramide (Gb3)
Read more
One of several types of angioedema, hereditary angioedema (HAE) is a rare genetic disease characterized by sudden recurrent
attacks of edema usually involving the hands, arms, feet, legs, thighs, face, or genitals, severe abdominal pain, vomiting,
and potentially life-threatening swelling of the larynx. HAE accounts for approximately 2% of all cases of angioedema and
attacks are not associated with urticaria or pruritis.
Read more
Metachromatic leukodystrophy (MLD) is an inherited disorder that causes lipids to accumulate in key cells
throughout the body. MLD affects the central and peripheral nervous systems and is characterized by devastating mental
deterioration occuring at several different age ranges depending on the type. Some cases progress rapidly to a life-threatening
stage within a few years of diagnosis (infantile) while others may progress slowly over a period of 10 or more years (adult).
Read more
Sanfilippo syndrome, also known as mucopolysaccharidosis III (MPS III), is a rare genetic disease that affects many
body systems leading to behavioral problems, deterioration in mental development, and damage to different body organs. It is
caused by a defect in the lysosomal enzyme sulfamidase, which normally breaks down glycosaminoglycans (GAG).
Read more