Hunter Syndrome Medical Glossary
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
adenoid
tissue in the posterior nasal cavity that contains cells involved in the immune response
amino acid
organic acid that contains both an amino group (NH2) and a carboxylic group (COOH) and is the smallest building block of proteins
amniocentesis
sampling of amniotic fluid to obtain fetal cells for prenatal diagnoses
amniocytes
fibroblast-like cell in amniotic fluid that can be used for prenatal diagnosis of disease
amniotic fluid
fluid contained in the amniotic sac, the inner membrane surrounding a fetus; contains cells shed by the fetus that can be used for prenatal diagnosis
analgesic
pain reliever
anesthesia
use of anesthetic to prevent pain during surgical procedures
anesthetic
drug that reversibly causes the loss of consciousness or ability to perceive pain or other sensations
anesthesiologist
medical doctor who specializes in administering anesthetics and related techniques, e.g., resuscitation, intensive respiratory care, and treatment of acute and chronic pain
antihypertensive
medication that lowers elevated blood pressure
aortic
referring to the aorta, the main blood vessel carrying oxygenated blood from the heart to the body
arrhythmia
irregular heart beat
audiologist
individual trained in the evaluation and rehabilitation of hearing disorders
autonomic nervous system
part of the nervous system controlling the smooth muscles, heart muscle, and glands
autosomal
carried on any chromosome other than the X or Y chromosomes
autosome
Any chromosome other than the X or Y chromosome
B
basement membrane
extracellular material containing a layer secreted by epithelial cells and another layer secreted by connective tissue cells
biopsy
surgical removal of tissue from living patient for examination of the specimen obtained
BiPAP
bilevel positive airway pressure device that varies pressure to keep the airway open
blood brain barrier (BBB)
selective mechanism of structures in the lining of blood vessels that prevents many compounds from leaving the blood and entering the brain; a similar mechanism prevents compounds from leaving the blood and entering parts of the eye, inner ear, and some types of nerves
bone marrow transplant (BMT)
transplantation of tissue contained within bones that gives rise to cells in the blood, including red blood cells, white blood cells, and platelets
C
cardiologist
medical doctor who specializes in the diagnosis and treatment of diseases affecting the heart
cardiomyopathy
disease affecting the heart muscle
carpal tunnel syndrome
numbness and pain in the hand caused by entrapment of the median nerve at the wrist
carrier
apparently unaffected individual who has a copy of a recessive gene that can be passed on to offspring
cartilage
connective tissue containing cells, collagen, and proteoglycans; found in joints, air passages, ears, and nose
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
central nervous system (CNS)
brain and spinal cord
cerebrospinal fluid (CSF)
fluid that surrounds the brain and the spinal cord
chorionic villus
projections on surface of the outer membrane surrounding the fetus that can be sampled for genetic diagnosis
chromosome
one of the bodies in the nucleus of a cell that carries the genes; most individuals have 46 chromosomes, 22 autosomes and 2 sex chromosomes, either 2 X or 1 X and 1 Y
communicating hydrocephalus
excessive accumulation of fluid in the skull that can result in enlargement of the skull and pressure on the brain; caused by defect in absorption of cerebrospinal fluid rather than obstruction of flow
conductive deafness
loss of hearing due to interference with sound transmission through the external or middle ear or its bones; in contrast to sensorineural deafness
connective tissue
tissue that supports the structure of the body; includes cartilage, bone, fatty, and other types of tissues
contracture
shortening of a muscle resulting in decreased or lost function
cornea
transparent tissue forming the outer covering of the eye
CPAP
continuous positive airway pressure breathing device to prevent airway collapse
D
deletion
genetic material is missing from a gene sequence, from one or more DNA bases to an entire gene to an entire chromosome
dermatan sulfate
GAG that accumulates in skin, blood vessels, the heart, and heart valves in Hunter syndrome due to the deficiency or absence of iduronate-2-sulfatase
dermatologist
medical doctor who specializes in the diagnosis and treatment of diseases affecting the skin and associated structures, and systemic diseases relating to these structures
developmental specialist
doctor who is trained in the evaluation of the acquisition and mastery or loss of biologic, intellectual, behavioral, and social skills
DNA
deoxyribonucleic acid; a chain of four 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
dominant
said of a genetic trait when only one altered copy of the gene is needed for effect to be seen
dysostosis multiplex
presence of multiple skeletal defects
E
endocrinologist
medical doctor who specializes in the diagnosis and treatment of diseases associated with hormonal secretions
endotracheal tube
tube inserted into the trachea to facilitate ventilation, e.g., in the presence of severe breathing problems or during anesthesia; see trachea
enzyme
protein that promotes a chemical reaction in other substances while remaining unchanged itself
epithelial
refers to cells covering the body surface and lining internal cavities
esophagus
portion of the digestive system connecting the throat to the stomach
extracellular matrix
substance that surrounds cells and holds them together; contains proteoglycans, adhesion proteins, and collagen and elastic fibers
F
fibroblast
type of cell in connective tissue that is capable of forming collagen fibers
first-degree relative
parent, child, or sibling
G
GAGs
glycosaminoglycan(s)
gastroenterologist
medical doctor who specializes in the diagnosis and treatment of diseases affecting the gastrointestinal tract, including the esophagus, stomach, intestines, and associated organs
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 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
glycosaminoglycan (GAGs)
protein polysaccharide complex; mucopolysaccharide; breakdown product of proteoglycans
glycosylation
addition of sugar molecules to a protein
gynecologist
medical doctor who specializes in the diagnosis and treatment of diseases affecting the female reproductive tract
H
heparan sulfate
GAG that accumulates in the lung, arteries, and other cell surfaces in Hunter syndrome due to the deficiency or absence of iduronate-2-sulfatase
hepatomegaly
enlarged liver
hernia
protrusion of a structure through the tissues that normally contain it
hirsutism
excessive hairiness
hormonal
referring to chemicals in the blood that are formed in one part of the body and are carried to another where they exert their effects; examples include growth factors
Hunter syndrome
rare, serious, X-linked genetic disorder caused by the deficiency or absence of the enzyme iduronate-2-sulfatase, resulting in accumulation of GAGs that interfere with cellular structure and function; also known as MPS II; named for Charles Hunter, a Canadian physician and leading diagnostic expert of his time in Western Canada
hypertrichosis
excessive hairiness
I
iduronate-2-sulfatase (I2S)
enzyme that is involved in the first step in the breakdown of the GAGs dermatan sulfate and heparan sulfate and that is deficient or missing in Hunter syndrome
infusion
introduction of fluids or medication into the body through a vein
inguinal hernia
protrusion of the intestine through the abdominal wall at the inguinal or groin area
intracellular
contained within a cell
L
lumbar puncture
a procedure where spinal fluid is removed for the purpose of the diagnostic testing
lysosome
small, membrane-bound compartment inside cells that contains enzymes
lysosomal storage disease
result of accumulation of products normally broken down by a lysosomal enzyme that is deficient or missing
M
macrocephaly
enlarged head
medical geneticist
medical doctor who specializes in the treatment and diagnosis of genetic diseases; see geneticist
mitral valve
valve between the two chambers on the left side of the heart
mosaic
individual with genetically different tissue; normal result of Lyon hypothesis; can also occur as a result of mutation
mucolipidosis
a type of lysosomal storage disease in which abnormal amounts of carbohydrates and lipids accumulate in the lysosomes of cells; may be confused with MPS
mucopolysaccharide
protein polysaccharide complex; glycosaminoglycan (GAGs); breakdown product of proteoglycan
mucopolysaccharidoses (MPS)
group of inherited diseases resulting from the abnormal accumulation of GAGs or mucopolysaccharides due to a deficiency or lack of the enzyme needed to process the GAGs
multiple sulfatase deficiency
inherited disease resulting from deficiency of enzymes needed to break down sulfides and sulfated mucopolysaccharides that may be confused with MPS
murmur
abnormal heart sound that may be due to a heart defect or other medical problem
musculoskeletal
muscles and bones and all of their associated structures, including the joints, spine, hips, arms, legs, hands, and feet
mutation
change in gene structure that subsequently can be inherited
N
neurologist
medical doctor who specializes in the diagnosis and treatment of diseases affecting the neuromuscular system, including the central, peripheral, and autonomic nervous systems
neuromuscular
referring to the relation between nerves and the muscles they control
night blindness
decreased ability to see in reduced light
nonsense mutation
insertion, deletion, or base change in genetic code that results in termination of protein formation at too early a point
nurse
individual who is trained in the prevention of and care during illness
O
obstetrician
medical doctor who specializes in the care of women during pregnancy and childbirth
obstetrician/ gynecologist (OB/GYN)
medical doctor who specializes in both obstetrics and gynecology
ophthalmologist
medical doctor who specializes in the diagnosis and treatment of diseases affecting the eye
orthopedist
medical doctor who specializes in the diagnosis and treatment of diseases affecting the musculoskeletal system
otorhinolaryngologist (otolaryngologist)
medical doctor who specialize in the diagnosis and treatment of diseases affecting the ear, nose, and throat, often including the upper respiratory and digestive tracts
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
peripheral vision
vision that results from stimulation of any area other than the center of the retina
physical therapist
individual who evaluates patients affected by pain, disease, or injury, and treats them using physical rather than medical, surgical, or radiological means
prenatal diagnosis
determination of disease status of an embryo or fetus
prognosis
outlook; expected outcome of a condition
proteoglycan
glycosaminoglycans bound to proteins in the extracellular matrix of connective tissues
psychiatrist
medical doctor who specializes in the diagnosis and treatment of mental disorders
psychologist
professional licensed to evaluate and treat mental disorders with techniques other than the use of drugs
pulmonary
having to do with the lungs
pulmonologist
medical doctor who specializes in the study and treatment of diseases of the lungs
R
recombinant DNA technology
process by which a gene can be isolated or synthesized and its product produced outside of the human body
recessive
said of a genetic trait where two copies of the responsible gene are needed for effect to be seen; if gene is present on X chromosome, males, who have only one X chromosome, will be affected
respiratory
having to do with breathing or the lungs
respiratory therapist
individual who is trained to evaluate and provide treatment for breathing problems
retina
light-sensitive, multilayered tissue in the eye, connected to the brain via the optic nerve, that allows vision
S
scoliosis
abnormal curvature of the spine
seizure
abnormal brain activity that can result in abnormal muscular movements and/or loss of consciousness
sensorineural deafness
loss of hearing due to disorders of hair cells or certain nerves in the ear, in contrast to conductive deafness
serum
liquid part of blood remaining after it has coagulated and the clot and cellular elements are removed
shunt
tube used to transport fluid from one part of the body to another
sleep apnea
disorder characterized by repetitive, intermittent cessation of breathing during sleep, associated with frequent wakening and daytime sleepiness
spleen
abdominal organ that helps form blood early in life, and later stores red blood cells, platelets, and immune cells
splenomegaly
enlarged spleen
spontaneous mutation
change in gene that arises naturally at random
stem cell
cell found in blood or other tissue that is capable of giving rise to many different cell types
surgeon
medical doctor who specializes in treating disease, injury, and deformity by performing operations (surgery)
systemic
related to the body as a whole rather than any individual part
T
tendon
fibrous tissue that connects muscle to bone
tonsil
tissue in the throat containing cells involved in the immune response
trachea
air tube extending from the voice box to the lungs
tracheostomy or tracheotomy
operation to create an opening, usually temporary, into the trachea from the outside to allow the patient to be ventilated
translocation
exchange of genetic material between two chromosomes as a result of abnormal breakage and re-fusion; can result in altered gene expression
tympanostomy tube
small tubes inserted through the eardrum (tympanum) to aerate the middle ear as a treatment for middle ear infection; may also be called PE tubes
U
umbilical cord
cord connecting the fetus to the placenta through which oxygenated blood and nutrients are received
umbilical hernia
protrusion of the intestine through the umbilicus or navel
V
valvular
referring to the valves of the heart, which control the flow of blood between the heart's chambers
venipuncture
puncturing the vein to obtain blood samples, start an intravenous drip, or to give a medication
ventriculoperitoneal (VP) shunt
tube used to drain excess cerebrospinal fluid from the ventricles of the brain to the abdominal cavity (peritoneum)
X
X chromosome
one of the two sex chromosomes; individuals with two X chromosomes are female; individuals with one X and one Y chromosome are male
X-linked
carried on the X chromosome; X-linked recessive genetic conditions affect almost exclusively males
Y
Y chromosome
sex chromosome that determines maleness
