A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

A

Amino acid
Organic acid that contains an amino group (NH2) and a carboxylic group (COOH) and is the smallest building block of proteins.

Anemia
A condition in which the number of red blood cells or the amount of hemoglobin (the protein that carries oxygen in the blood stream) is low.

Antibody
A type of protein used by the immune system to identify and fight off foreign objects like bacteria.

Aseptic necrosis
A bone condition that results from poor blood supply to an area of bone, causing bone death.

Ataxia
Uncoordinated movements.

Autosomal
Carried on any chromosome other than the X or Y chromosomes.

Autosomal recessive
A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur.

Avascular
Without blood vessels.

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B

Bisphosphonate
A treatment that helps prevent the loss of bone mass.

Bone crisis
Severe bone pain caused by poor blood circulation to the bone.

Bone marrow
Soft vascular connective tissue in the cavities of most bones.

Bone mineral density
The mineral density in bones.

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C

Carrier
An apparently unaffected individual who has a copy of a recessive gene that can be passed on to offspring.

Case manager
Individual who helps patients and their families navigate the healthcare system.

Cell line
Cells that have been derived from a single parent cell and adapted to grow outside the body.

Corticosteroid
A type of medication used to treat such things as swelling, itching, and redness due to severe allergies.

CT scan
An x-ray procedure used to evaluate normal and abnormal structures in the body. Also known as a CAT scan.

Cytopenia
Abnormally decreased numbers of cells, usually referring to blood cells.

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D

DNA
Deoxyribonucleic acid; a chain of 4 kinds of molecules or bases, adenine (A), guanine (G), cytosine (C), and thymine (T), which are capable of forming cross-linked pairs, where A pairs with T and C pairs with G.

DXA
Stands for dual-energy x-ray absorptiometry, which is a means of measuring bone mineral density.

Dyspnea
Difficulty breathing.

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E

Enzyme
Protein that promotes a chemical reaction in other substances while remaining unchanged itself.

Enzyme replacement therapy (ERT)
Treatment of a condition caused by the deficiency or absence of an enzyme by providing a purified or synthetic form of that enzyme.

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F

Fatty acids
Belong to a category of biological molecules called lipids. Fatty acids are classified as either saturated or unsaturated.

Fibroblast
Type of cell in connective tissue that is capable of forming collagen fibers.

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G

Gaucher cell
An altered macrophage characteristic of Gaucher disease.

Gaucher disease
Sphingolipidosis caused by a deficiency of the lysosomal enzyme glucocerebrosidase, resulting in accumulation of glucocerebroside and subsequent tissue and organ damage (also known as glucocerebrosidosis).

Gene
Hereditary unit that occurs at specific locations in the chromosomes; in normal, nonreproductive cells, genes occur in pairs, except for those on the X and Y chromosomes in males.

Gene therapy
Replacing a defective or missing gene with a functioning copy of the gene isolated from a normal individual or synthesized in the laboratory.

Genetic counselor
Individual who is academically and clinically trained to provide counseling services to patients and families about the risk for or occurrence of a genetic disease or birth defect.

Geneticist
Medical doctor who specializes in the treatment and diagnosis of genetic diseases; see medical geneticist.

Genotyping
Process of determining a person’s genetic makeup by examining an individual’s DNA sequence.

Glucocerebrosidase
An enzyme in the body that breaks down the chemical glucocerebroside. Also called glucosylceramidase.

Glucocerebroside
A cerebroside containing a glucose sugar; it accumulates in the tissues in Gaucher disease.

Glycosylation
Addition of sugar molecules to a protein.

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H

Hemoglobin
Protein that carries oxygen in the blood from the lungs to tissues.

Hepatomegaly
A swelling/enlargement of the liver beyond its normal size.

Hypersensitivity reaction
Undesirable reactions produced by the normal immune system.

Hypersplenism
Removal of blood cells or platelets by the spleen so rapidly as to cause abnormally low levels of the cells or platelets.

Hypertonia
An upper motor neuron dysfunction marked by an abnormal increase in tightness of muscle tone and a reduced ability of a muscle to stretch.

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I

Infusion
Introduction of a fluid other than blood into the body through a vein.

Ischemia
Ischemia is a blockage of blood supply. It can be due to various causes.

Isometric
Relates to and involves muscular contraction against resistance, without significant shortening of muscle fibers, and with marked increase in muscle tone.

Isotonic
Relates to and involves muscular contraction in the absence of significant resistance, with marked shortening of muscle fibers, and without great increase in muscle tone.

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L

Leukocytes
White blood cells.

Lysosome
A saclike cellular organelle that contains various hydrolytic enzymes.

Lysosomal storage disorders (LSDs)
Inherited metabolic disorders that result in accumulation of components normally broken down by a lysosomal enzyme, but lysosomal function is deficient, defective, or missing.

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M

Macrophage
Cell in the blood or tissues capable of movement and ingestion of foreign objects such as bacteria.

Magnetic resonance imaging (MRI)
A noninvasive diagnostic technique that produces computerized images of internal body tissues.

Medical geneticist
Medical doctor who specializes in the treatment and diagnosis of genetic diseases; see geneticist.

Megakaryocyte
Large bone marrow cell from which platelets are formed.

Mutation
Change in gene structure that can be inherited.

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O

Osteonecrosis
Bone death caused by poor blood supply to an area of bone. Also known as avascular necrosis or ischemic bone necrosis.

Osteopenia
A condition in which bone mineral density is lower than normal.

Osteoporosis
A disease of bone that leads to an increased risk of fracture due to reduced bone mineral density.

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P

Pediatric
Relating to the study and treatment of children from birth through adolescence.

Pediatrician
Medical doctor who specializes in the study and treatment of children from birth through adolescence.

Platelets
Cells produced in bone marrow responsible for helping the blood clot.

Prostate
Male reproductive organ that stores and secretes male reproductive fluids.

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R

Recombinant DNA technology
Process by which a gene can be isolated or synthesized and its product produced outside of the human body.

Recessive
A genetic trait that is expressed only in the absence of a normal allele.

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S

Spleen
Abdominal organ that helps form blood early in life, and later stores red blood cells, platelets, and immune cells.

Splenectomy
Procedure in which the spleen is removed.

Splenomegaly
A swelling/enlargement of the spleen beyond its normal size.

Strabismus
A condition in which the eyes deviate (turn) when looking at an object.

Substrate reduction therapy (SRT)
An oral treatment for Gaucher disease that works by reducing the rate of glucosylceramide that is produced, which slows swelling of Gaucher cells.

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T

Thrombocytopenia
A disorder in which there is an abnormally low number of platelets.

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U

Ultrasound (or Ultrasonography)
A diagnostic technique that uses sound waves to obtain images of tissues and organs.

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V

Velaglucerase alfa for injection
An enzyme replacement therapy for the treatment of type 1 Gaucher disease, known as VPRIV.

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