Glossary

The medical terms below all relate to Gaucher disease and lysosomal storage disorders. Some terms may not be used on GaucherCare.com, but are provided here as additional reference.

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 - B - C

ACE:
An abbreviation for angiotensin-converting enzyme. ACE is a vasoconstricting enzyme that causes a narrowing of the blood vessels which restricts blood flow
Albumin:
A water-soluble protein found in most tissues. Albumin levels are often used in many diagnostic tests. The constant presence of albumin in the urine usually indicates kidney disease.
Allele:
Any one of two or more genes occupying the same locus (precise location) on a chromosome, determining a given characteristic, such as eye color.
Anemia:
Low red blood cell count, which often results in fatigue, lethargy, and other symptoms.
Angioedema:
An accumulation of fluid under the skin, usually due to an allergic response.
Antibody:
A type of protein that is part of the immune system. Antibodies recognize and attach themselves to infectious organisms and foreign materials so they can be removed from the body.
AST and/or ALT:
Abbreviations for enzymes involved in specific metabolic processes; blood levels of these enzymes are used as diagnostic aids in viral hepatitis and myocardial infarction. AST is the abbreviation for aspartate transaminase (the term formerly used was SGOT) and ALT is the abbreviation for alanine aminotransferase (the term formerly used was SGPT).
Asymptomatic:
without symptoms indicative of disease.
Autosomal recessive disorder:
A genetic condition transmitted by mutated autosomes (non-sex-related chromosomes) caused when an individual receives one mutated allele from each parent (carrier).
Avascular necrosis:
Death of the cells in a bone or joint due to a loss of blood flow. Avascular necrosis may result from blockage of blood vessels inside a weakened and collapsing bone.
Biopsy:
removing tissue, cells, or fluids from the body, usually to perform a biochemical or diagnostic test.
Bone crisis:
An episode of intense, acute pain that may last for hours to days and maybe accompanied by local and/or systemic fever. A bone crisis occurs when there is a lack of oxygen in an area where Gaucher cells have interfered with normal blood flow.
Bone lesion:
An abnormality of bone tissue usually visible using imaging techniques.
Biochemical marker:
A substance whose detection indicates a biochemical (chemical, molecular, and physical) activity or change in the body, its tissues or cells; the biochemical marker may be monitored in the assessment of a disorder or condition.
Carrier:
A person who possesses at least one gene that may contribute to disease in offspring.
Ceramide:
A complex lipid. An example is glucocerebroside, which is composed of ceramide and glucose.
Chitotriosidase:
An enzyme in the group known as chitinases that metabolize very complex sugar molecules; it is considered a biochemical marker of Gaucher disease. Gaucher cells, as activated macrophages, were determined to be a source of chitotriosidase with the demonstration of massive secretion of the enzyme by cultured macrophages containing accumulated glucocerebroside.
Chromatography:
A technique used to separate complex mixtures.
Chromosome:
A threadlike strand of DNA and associated proteins in every plant and animal cell. Chromosomes carry the genes that define a person's bodily makeup (e.g., hair and eye color, disease expression).
Chronic granulocytic leukemia:
A mixed group of disorders in the formation of blood cells in the bone marrow that may evolve into acute leukemia (blood cancer).
Cirrhosis:
Liver disease at an advanced stage with widespread damage to the cells of the liver such that there is loss of liver function and interference with blood flow in the liver.
Collapsed vertebra:
A crushed or contracted bone in the spinal column, usually resulting from a chronic disease that has led to a decrease in bone density and strength.
Contraindication:
Any factor prohibiting the use of a particular procedure or drug for a specific patient because of the likelihood of unwanted results.

D - E - F - G – H

DEXA (dual energy X-ray absorptiometry):
A bone scan test used to measure bone density.
DNA (deoxyribonucleic acid):
The storehouse of all hereditary characteristics. All chromosomes and genes contain DNA.
Enzyme:
A type of protein that facilitates chemical changes in other substances.
Femur:
the longest and largest bone in the human body, extending from the hip to the knee.
Fibrosis:
The formation of fibrous tissue in a repair or reactive process, as opposed to formation of fibrous tissue as a normal part of the tissue or organ.
Gaucher cell:
A cell containing excess glucocerebroside, which accumulates in the lysosomes because of a lack of the enzyme glucocerebrosidase.
Gaucher disease:
A lysosomal storage disorder characterized by the accumulation of cells containing excess glucocerebroside (Gaucher cells) in various tissues and organs. This is due to a deficiency of the enzyme glucocerebrosidase. Gaucher disease causes a range of conditions, including hepatosplenomegaly, blood disorders, and bone complications.
Gene:
A piece of DNA that occupies a specific location on a chromosome and which defines a person's makeup and function.
Genetic:
Affecting or affected by genes (genetic disorder).
Genetic counsellor:
An expert in genetic disorders who provides information about the risk and difficulty of a disorder to patients or relatives in families with genetic disorders as an aid to making informed decisions about marriage, children, early diagnosis, and prognosis.
Glycosphingolipid:
A fatty substance. There are many different types of glycosphingolipids; in the case of Gaucher disease, certain glycosphingolipids can not be broken down and accumulate due to an enzyme deficiency.
Glucocerebrosidase:
The enzyme that is deficient in people with Gaucher disease. It breaks down glucocerebroside into glucose and ceramide.
Glucocerebroside:
A type of fat (lipid) molecule that accumulates in individuals with Gaucher disease. Also called glucosylceramide.
Glucose:
A simple sugar that is the major energy source in the body.
Glucosylceramide:
Another name for glucocerebroside.
Hematologist:
A physician who diagnoses and treats diseases of the blood and bone marrow.
Hemoglobin:
A component of red blood cells that transports oxygen from the lungs to other tissues in the body.
Hepatomegaly:
Enlargement of the liver.
Hepatosplenomegaly:
Enlargement of the liver and spleen.
Heterogeneous:
Consisting of dissimilar elements or parts; varied
Hodgkin's disease:
A form of cancer marked by enlargement of the lymph nodes, enlargement of the spleen or liver, and anemia.

I - J - K - L - M - N - O

Immune system:
A collection of cells and proteins that work to protect against foreign organisms or substances in the body.
Infarct:
An area of dead tissue resulting from diminished or stopped blood supply. Infarcts can occur in any type of tissue, including bone.
Infusion:
The introduction of a fluid other than blood into a vein, often over a long period of time. Many medicines are administered by infusion.
Intravenous:
A word meaning "within a vein or veins." Used to describe an injection into a vein to provide nutrition, water, or medication. Infusions are given intravenously.
Lipid:
A type of fat molecule. Lipids are important components of cellular membranes.
Lysosome:
A specialized compartment within a cell that contains enzymes for breaking down complex molecules.
Lysosomal storage disorders:
A class of genetic disorders characterized by deficiencies of specific enzymes found in lysosomes, particularly those in macrophages.
Macrophage:
A type of white blood cell that actively consumes and removes foreign materials and cellular debris from the body. Some macrophages reside in connective tissue, liver, or spleen, and others circulate in the blood.
Metabolic:
Relating to metabolism, a term used to describe the chemical and physical changes that occur in the body when molecules are either broken down or built up in cells and tissues.
Monocyte:
A type of white blood cell that has a single nucleus. Monocytes are usually located in the lymph nodes, spleen, bone marrow, and soft connective tissue.
MRI (magnetic resonance imaging):
Medical imaging that allows a noninvasive view of the internal organs, including bone marrow.
Multiple myeloma:
A form of cancer that originates in the bone marrow and is associated with signs and symptoms similar to those found in Gaucher disease, such as anemia, hemorrhage, recurrent infections, and weakness.
Mutant gene:
A gene that has changed (mutated), affecting normal transmission and expression of a trait.
Neuronopathic:
A word used to describe a disorder that affects the brain or nervous system.
Neutropenia:
A lack of neutrophils (white blood cells) in the blood.
Nodule:
A small knob or mass of differentiated tissue.
Osteochondritis:
Inflammation of the bone and its cartilage.
Osteonecrosis:
Death of bone tissue.
Osteopenia:
Loss of bone density, which may lead to osteoporosis and bone complications such as collapsed vertebrae, bone fractures, and avascular necrosis.
Osteoporosis:
A reduction in bone mass that causes an increased susceptibility to fractures.

P - Q - R - S

Panethnic:
Affecting people of any ethnic background.
Pathogenesis:
Causing or capable of causing disease.
Pathologic fracture:
A sudden break in a bone caused by a slow loss of bone density due to a disease.
Perthes disease:
Death of bone tissue in the upper end of the femur (thigh bone).
Platelets:
Blood cells involved in clotting.
Protein:
The building blocks of cells involved in all essential life functions (e.g., cell growth, energy production, metabolism).
Pruritus:
Itching.
Pubertal delay:
A lack of the signs of puberty in either sex by age 14.
Puberty:
A sequence of events by which a child becomes an adult. Characterized by the secretion of gonadal hormones and the development of secondary sexual characteristics (e.g., facial hair in males and breasts in females).
Pulmonary:
Relating to the lungs, to the pulmonary artery, or to the opening leading from the right ventricle of the heart into the pulmonary artery.
Receptors:
Specialized structures, often on the surface of cells, that recognize molecules for signaling or for transporting into the cell.
Recombinant DNA technology:
A procedure for manufacturing proteins by manipulation of DNA segments.
Red blood cell:
A cell in the blood of vertebrates that transports oxygen and carbon dioxide to and from the tissues; in mammals it contains hemoglobin.
Renal:
Pertaining to the kidney.
Sepsis:
Destruction of tissue by bacterial toxins; infection.
Splenomegaly:
Enlargement of the spleen.
Splenectomy:
Surgical removal of the spleen.
Symptom:
A change from normal structure, function, or sensation as would be experienced by the patient and indicative of disease.

T - U - V - W - X - Y - Z

Tartrate resistant acid phosphatase (TRAP):
an enzyme which is found mainly in bone and some blood cells. TRAP is released when cells that break down bone are active; because of this, any condition in which bone is broken down faster than usual may lead to excessive levels of TRAP in the blood. In this case the TRAP is not contained within the blood cells, but is free in the plasma, the liquid part of blood. TRAP levels are also elevated in a type of leukemia or blood cancer.
Thalassemia:
An inherited blood disorder affecting the production of hemoglobin.
Thrombocytopenia:
A condition in which there is an abnormally small number of platelets in the blood.
Tibia:
the inner and larger of the two bones of the leg between the knee and ankle.
Type 1 Gaucher disease (non-neuronopathic):
A form of Gaucher disease that involves primarily the spleen, liver, blood and bone. Type 1 Gaucher disease does not involve the nervous system. Signs include anemia, low platelet count, enlarged spleen and/or liver, and bone problems.
Type 2 Gaucher disease (acute neuronopathic):
A rare and severe form of Gaucher disease that involves the nervous system in addition to organs and tissues affected in Type 1 Gaucher disease.
Type 3 Gaucher disease (chronic neuronopathic):
A rare form of Gaucher disease that involves the nervous system in addition to other organs and tissues. Neurologic signs and symptoms are less severe than those seen in Type 2 Gaucher disease.
Urticaria:
An eruption of itchy hives on the skin.
White blood cells:
A group of cells that are involved in protecting the body from infection and invasive foreign materials.
X-ray:
Electromagnetic radiation of short wavelength used to penetrate tissues and record densities on film.