Term	Explanation
Dermatan sulphate	A glycosaminoglycan (15 ‐ 40 kD) found mostly in skin, but also in blood vessels, heart valves, tendons, and lungs. It is broken down by L iduronidase, but accumulates intra lysosomally in Hurler syndrome and Hunter syndrome.
Facies	Distinctive facial expressions associated with specific medical conditions.
Gaucher disease	A chronic congenital, autosomal recessive disease of lipid metabolism caused by a deficiency of the beta‐glucocerebrosidase enzyme. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction.
Glycosaminoglycans	Previously referred to as mucopolysaccharides, are long unbranched polysaccharides consisting of a repeating disaccharide unit. The repeating unit consists of a hexose (six‐carbon sugar) or a hexuronic acid, linked to a hexosamine (six‐carbon sugar containing nitrogen).
Heparan sulphate	A linear polysaccharide found in all animal tissues. It regulates a wide variety of biological activities, including developmental processes, angiogenesis, blood coagulation and tumour metastasis.
Lysosome	A membrane bounded cytoplasmic organelle containing a variety of hydrolytic enzymes.
Mucopolysaccharidosis	Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides. They are identified by the excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, and connective tissue.
Pharmacodynamics	The study of the biochemical and physiological effects of drugs and the mechanisms of their actions, including the correlation of actions and effects of drugs with their chemical structure.
Pharmocokinetics	The study of the action of the body on drugs over a period of time, including the processes of absorption, distribution, metabolism, localisation in tissues, biotransformation, elimination and excretion.
Recombinant DNA	Spliced DNA formed from two or more different sources that have been cleaved by restriction enzymes and joined by ligases.