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