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Acroparethesia: The burning pain in the hands and feet that a Fabry patient experiences. This pain can radiate up the extremities.

Alpha Galactosidase: A (alpha-GAL). The enzyme that is either missing or exists in less than adequate amounts in people with Fabry disease that is necessary to break down a particular substrate.

Angiokeratomas: The dark red skin legions that is usually found in the swimsuit area of Fabry patients.

Anhidrosis: The inability to sweat. Many Fabry patients experience anhidrosis.

Assay: A laboratory procedure to determine the activity of an enzyme isolated from a patient when compared to normal, or the amount of a particular substance found in blood or urine that may be present in excessive amounts.

Azotemia: An excessive amount of nitrogen bodies in the blood, resulting from kidney insufficiency.

Cardiomyopathy: An enlargement of the heart.

Carrier: A person who is heterogeneous for a recessive mutation in a gene. Carriers do not usually develop the disease they carry, but they can pass the gene onto their children.

Catabolic: The metabolic process in which materials are broken down.

Chromosome: A structural unit of genetic material which consists of a singular linear double stranded DNA molecule packed with proteins to form a structural organ called cromatin.

Conjunctival: Involving the fine cell layer covering the eye and inner surface of the eyelids.

Corneal Opacities: Clouding in the cornea, usually a sign of Fabry disease.

Corneal Verticullata: Whorl-like opacities in the cornea.

Creatinine Clearance: Clearance of toxic buildup in the kidney.

DNA: Deoxyribonucleic Acid. A long linear polymer that is the carrier of genetic information. It is comprised of four kinds of deoxyribose nucleitides represented by the letters A,T,G and C. In its native state, DNA is a double-helix of two strands held together by base pairing A with T and G and C.

DNA Sequencing: A laboratory procedure that determines the order of base pairs in a segment of DNA.

Dorsal Root Ganglia: Nerve bundles located at the back of the spine.

Enzyme: A protein that acts as a catalyst, speeding the rate at which a biochemical reaction proceeds, but not altering the direction or nature of the reaction.

Enzyme Replacement Therapy: The infusion of artificially manufactured and pure enzyme into patients in whom that particular enzyme is deficient or absent.

Exogenous: created outside of the body

Fabry Crisis: episodic agonizing incapacitating pain that can last minutes to days

Gene: A portion of a chromosome that is a transcription unit, i.e. the DNA that is transcribed into the primary mRNA.

Gene Defects: Change in the unit of the heredity, usually resulting in the expression of a disease, also called a mutation. Mutations usually disrupt the structure of a protein. In the case of an enzyme, this change may result in the loss of function.

Globotriaosylceramide: Also known as GL-3. The fatty compound that accumulates in the blood vessel wall of people with Fabry disease. Fabry patients do not produce adequate amounts of alpha galactosidase, the enzyme that breaks down the globotriaosylceramide.

Glomerular Filtration Rate: (GFR) A measurable volume of filtration in the glomerulus.

Hemiplegia: Paralysis of one side of the body

Hemizygote: The male is hemizygote for the X-chromosome. (he has only one copy of the chromosome X).

Heterozygote: Organism carrying two different alleles of the same gene.

Hypertrophic Cardiomyopathy: A heart condition resulting in abnormal thickening of the ventricular septum and left ventricular wall.

Hypohidrosis: Decreased ability to sweat

Isosthenuria A state in renal disease in which the kidney cannot concentrate or dilute urine. The spcific gravity of the urine becomes fixed around 1.010, irrespective of the fluid intake.

Lymphedema: Swelling of the subcutaneous tissues caused by obstruction of the lymphatic drainage.

Lyonization: When genes on one of the x-chromosomes of the female is randomly inactivated early in the developmental process.

Lysosomal Storage Disease: An inherited disease characterized by a defect in the functional expression of any of the lysosomal enzymes.

Mitral Valve Insufficiency: Malfunction of the Mitral valve, allowing the regurgitation or backflow of blood.

Mitral Valve Prolapse:A heart valvue that does not completely block the backward flow of blood. Heart valves close when the heart pumps to keep blood flowing in one direction.

Mutation: The process by which a gene or some other DNA sequence undergoes a permanent change in the structure. Mutations are gene defects where an error in the code for a specific structural or functional protein.

Neuropathic: The disease of the nervous system.

Paresthesia: The burning, tingling painful sensation that Fabry patients experience.

Pedigree: A family tree; a diagram that a genetic councilor will draw to outline the family history.

Proteinuria: Excessive protein in the urine.

Slit Lamp Ophthalmoscop: Examination of the eye with an instrument consisting essentially of a mirror that reflects light into the eye and a central hole through which the eye is examined. It is a simple exam that can be performed by most eye doctors (ophthalmologists).

Tortuosity: A twisted or crooked.

White Matter Infarcts: Small deep infracts either in the cerebral hemisphere or in the brainstem.

Whorling: A starburst pattern commonly found on the cornea of people with Fabry disease.

X-chromosome: Sex determining chromosome. Females have two X Chromosomes.

X-linked: A genetic disease whereby the faulty gene is carried on the X chromosome.

Y-chromosome: Sex determining chromosome. Males have one X and one Y chromosome.