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Patient Glossary

ACE inhibitor

Angiotensin-converting enzyme inhibitor – a type of drug used to treat high blood pressure

Acroparesthesia

Tingling sensations or numbness in the extremities (e.g. hands, fingers, toes)

a-Gal A

Alpha-galactosidase A – an enzyme that helps to break down globotriaosylceramide (Gb3)

Alpha-galactosidase A

An enzyme that helps to break down globotriaosylceramide (Gb3)

Anderson-Fabry disease

A lysosomal storage disorder (LSD) named after the doctors who first identified the disease; it is also known as Fabry disease

Angiokeratoma

A skin rash, which appears as small, raised, dark-red spots

Anhidrosis

An inability to sweat

Anti-blood clotting drugs

Drugs that prevent blood from thickening, which maintains the flow of blood around the body

Cardiac

Relating to the heart

Cardiologist

A doctor who specializes in problems of the heart

Central nervous system

The body’s control network – consisting of the brain and the spinal cord

Chromosome

The structure in each cell of the body that contains a person’s DNA; humans have 46 chromosomes in each cell

Cornea

The transparent front part of the eye that helps the eye to focus

Cornea verticillata

A whorl-like opaque area on the cornea, which can be seen during an eye examination when using special equipment

Dermatologist

A doctor who specializes in problems of the skin

Dialysis

The process of removing waste products from the blood using a special machine

DNA

Deoxyribonucleic acid – the substance that contains the genetic instructions for the development of life in all living organisms

Enzyme

A protein that helps to speed up chemical reactions in living organisms

Enzyme replacement therapy (ERT)

A type of treatment which replaces a deficient enzyme in the body

Fabry disease

A lysosomal storage disorder (LSD); it is also known as Anderson-Fabry disease

Foetus

An unborn baby

Gastrointestinal

Relating to the digestive system (e.g. stomach, large and small bowel)

Gaucher disease

A lysosomal storage disorder (LSD) that is caused by the deficiency of an enzyme called ‘glucocerebrosidase’

Gb3 (also known as GL3 or CTH)

Globotriaosylceramide – a fatty substance that is normally broken down by alpha-galactosidase A, and builds up in the body in patients with Fabry disease

Gene

A sequence of DNA that codes for a particular hereditary characteristic

Genetics

The science of inheritance

Globotriaosylceramide

A fatty substance that is normally broken down by alpha-galactosidase A, which builds up in the body in patients with Fabry disease

Haemorrhagic stroke

A type of stroke caused by a blood vessel bursting, which interrupts the flow of blood to the brain

Hereditary

The transfer of characteristics from a parent to a child

Hunter syndrome

A lysosomal storage disorder (LSD) that is caused by the deficiency of an enzyme called ‘iduronate-2-sulfatase’

Hurler disease

A lysosomal storage disorder (LSD) that is caused by the deficiency of an enzyme called ‘alpha-L iduronidase’

Hyperhidrosis

An abnormal increase in sweating

Hypohidrosis

An abnormal decrease in sweating

Infusion

The process of introducing a fluid into the body, usually through a vein (intravenous infusion)

Irritable bowel syndrome

A chronic disorder of the digestive system, which causes pain and discomfort

Ischemic stroke

A type of stroke caused by a blockage that stops blood from reaching the brain

Left ventricular enlargement

An abnormal increase in size of one of the chambers of the heart

Lysosomal storage disorders (LSDs)

A group of rare genetic medical disorders caused by defects in the lysosomes; also known as lysosomal storage diseases

Lysosome

A subunit of human cells that contains enzymes to help break down waste products

Metabolic disease

A medical disorder that affects the production of energy in human cells

Molecule

The smallest unit of a substance

Mucopolysaccharide diseases

A group of genetic diseases caused by defects in lysosomes

Mutation

A change that takes place in a gene while a cell is dividing, e.g. in the production of eggs or sperm

Nausea

Feeling sick

Nephrologist

A doctor who specializes in problems of the kidneys

Neurologist

A doctor who specializes in problems of the nervous system (including the brain, spinal cord and nerves)

Neurovascular

Relating to the interaction between the nervous system and blood vessels

Ophthalmologist

A doctor who specializes in problems with the eyes

Opiate-based pain relief

A medicine that is given to reduce severe pain, and which is related to morphine

Pacemaker

A medical device that helps to regulate the heartbeat

Protein

A large molecule that forms an essential part of all living cells; all enzymes are proteins

Proteinuria

An abnormal increase in protein in the urine

Renal

Relating to the kidneys

Sign

A change caused by a disorder that is seen by a physician but is not always noticed by the patient

Stroke

A loss of brain function caused by the interruption of the blood supply to the brain

Symptom

A change caused by a disorder that is noticed by the patient

Tinnitus

A ringing sound in the ear

Vertigo

A sensation of dizziness or disorder of balance