Fabry Disease

Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders. Fabry disease is inherited as an X-linked disorder.

There are two major disease phenotypes: type 1 “classic” and type 2 “later-onset” subtypes. Both lead to renal failure, and/or cardiac disease, and early death. Males with the type 1 classic and type 2 later-onset phenotypes are typically significantly more severely affected than their affected female relatives. Females typically have a more variable course and may be asymptomatic or as severely affected as their male relatives.

Gaucher Disease

Gaucher disease is an inherited autosomal recessive genetic condition that causes fats to build up in certain organs and bones.

Individuals with Gaucher disease do not have sufficient glucocerebrosidase, the enzyme that breaks down the fat molecule glucocerebroside. The body accumulates this fatty substance in the lysosomes, classifying the disease as a lysosomal storage disease.

The build-up in the liver, spleen, bone marrow, and occasionally the lungs can cause symptoms such as bone pain, anaemia, enlarged spleen and liver, and breathing problems. The bone symptoms can result in severe pain, damage to joints, and fractures.

Hunter Syndrome

Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme called iduronate 2-sulfatase. This enzyme's job is to break down certain complex molecules, and without enough of it, the molecules build up in harmful amounts.

The buildup of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.

Hunter syndrome is far more common in boys. The condition is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs). Hunter syndrome is also known as MPS II.