Glossary

A nutrient-enriched solution that supports the growth of cell lines.

A protein produced by living cells that causes specific biochemical reactions at body temperatures.

Naturally occurring molecules that serve to ‘activate’ specific enzymes.

A therapy designed to address the underlying enzyme deficiency associated with a lysosomal storage disorder or other disease characterized by an enzyme deficiency.

A segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence.

A cell that has been genetically modified to produce a specific protein and is used as a ‘seed’ to produce cells which are identical to it (a cell line).

A disorder characterized by the buildup of substrates within the lysosomes of cells.

A cell organelle that digests wastes and materials within the cell using enzymes.

A lysosomal storage disorder characterized by a deficiency of the enzyme, alpha-L-iduronidase.

A lysosomal storage disorder characterized by a deficiency of the enzyme, of N-acetylgalactosamine 4-sulfatase (arylsulfatase B).

A small structure within a cell that performs a dedicated function, analogous to an organ in the human body.

A U.S. Food and Drug Administration designation conferred upon investigational products that are being developed for diseases that affect fewer than 200,000 patients in the United States. Products with orphan drug status that are the first to be approved for a specific indication have seven years of market exclusivity within the United States.

A European Medical Evaluation Agency designation conferred upon investigational products for diseases that affect fewer than five in 10,000 patients in the European Union. Products with orphan medicinal status that are the first to be approved for a specific indication have 10 years market exclusivity within the European Union.

An enzyme needed to metabolize phenylalanine, an amino acid found in most protein-containing foods. People with the disease PKU lack sufficient quantities of this enzyme.