ACE inhibitor
Angiotensin-converting enzyme inhibitor - a type of drug used to treat high blood pressure
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Acroparesthesia
Tingling sensations or numbness in the extremities (e.g. hands, fingers, toes)
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a-Gal A
Alpha-galactosidase A - an enzyme that helps to break down globotriaosylceramide (Gb3)
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Alpha-galactosidase A
An enzyme that helps to break down globotriaosylceramide (Gb3)
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Anderson-Fabry disease
A lysosomal storage disorder (LSD) named after the doctors who first identified the disease; it is also known as Fabry disease
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Angiokeratoma
A skin rash, which appears as small, raised, dark-red spots
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Anhidrosis
An inability to sweat
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Anti-blood clotting drugs
Drugs that prevent blood from thickening, which maintains the flow of blood around the body
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Cardiac
Relating to the heart
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Cardiologist
A doctor who specializes in problems of the heart
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Central nervous system
The body's control network - consisting of the brain and the spinal cord
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Chromosome
The structure in each cell of the body that contains a person’s DNA; humans have 46 chromosomes in each cell
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Cornea
The transparent front part of the eye that helps the eye to focus
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Cornea verticillata
A whorl-like opaque area on the cornea, which can be seen during an eye examination when using special equipment
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Dermatologist
A doctor who specializes in problems of the skin
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Dialysis
The process of removing waste products from the blood using a special machine
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DNA
Deoxyribonucleic acid - the substance that contains the genetic instructions for the development of life in all living organisms
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Enzyme
A protein that helps to speed up chemical reactions in living organisms
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Enzyme replacement therapy (ERT)
A type of treatment which replaces a deficient enzyme in the body
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Fabry disease
A lysosomal storage disorder (LSD); it is also known as Anderson-Fabry disease
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Foetus
An unborn baby
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Gastrointestinal
Relating to the digestive system (e.g. stomach, large and small bowel)
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Gaucher disease
A lysosomal storage disorder (LSD) that is caused by the deficiency of an enzyme called 'glucocerebrosidase'
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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
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Gene
A sequence of DNA that codes for a particular hereditary characteristic
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Genetics
The science of inheritance
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Globotriaosylceramide
A fatty substance that is normally broken down by alpha-galactosidase A, which builds up in the body in patients with Fabry disease
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Haemorrhagic stroke
A type of stroke caused by a blood vessel bursting, which interrupts the flow of blood to the brain
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Hereditary
The transfer of characteristics from a parent to a child
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Hunter syndrome
A lysosomal storage disorder (LSD) that is caused by the deficiency of an enzyme called 'iduronate-2-sulfatase'
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Hurler disease
A lysosomal storage disorder (LSD) that is caused by the deficiency of an enzyme called 'alpha-L iduronidase'
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Hyperhidrosis
An abnormal increase in sweating
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Hypohidrosis
An abnormal decrease in sweating
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Infusion
The process of introducing a fluid into the body, usually through a vein (intravenous infusion)
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Irritable bowel syndrome
A chronic disorder of the digestive system, which causes pain and discomfort
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Ischaemic stroke
A type of stroke caused by a blockage that stops blood from reaching the brain
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Left ventricular enlargement
An abnormal increase in size of one of the chambers of the heart
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Lysosomal storage disorders (LSDs)
A group of rare genetic medical disorders caused by defects in the lysosomes; also known as lysosomal storage diseases
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Lysosome
A subunit of human cells that contains enzymes to help break down waste products
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Metabolic disease
A medical disorder that affects the production of energy in human cells
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Molecule
The smallest unit of a substance
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Mucopolysaccharide diseases
A group of genetic diseases caused by defects in lysosomes
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Mutation
A change that takes place in a gene while a cell is dividing, e.g. in the production of eggs or sperm
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Nausea
Feeling sick
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Nephrologist
A doctor who specializes in problems of the kidneys
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Neurologist
A doctor who specializes in problems of the nervous system (including the brain, spinal cord and nerves)
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Neurovascular
Relating to the interaction between the nervous system and blood vessels
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Ophthalmologist
A doctor who specializes in problems with the eyes
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Opiate-based pain relief
A medicine that is given to reduce severe pain, and which is related to morphine
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Pacemaker
A medical device that helps to regulate the heartbeat
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Protein
A large molecule that forms an essential part of all living cells; all enzymes are proteins
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Proteinuria
An abnormal increase in protein in the urine
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Renal
Relating to the kidneys
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Sign
A change caused by a disorder that is seen by a physician but is not always noticed by the patient
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Stroke
A loss of brain function caused by the interruption of the blood supply to the brain
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Symptom
A change caused by a disorder that is noticed by the patient
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Tinnitus
A ringing sound in the ear
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Vertigo
A sensation of dizziness or disorder of balance
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