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adenoid: clumps of tissue in the nasal cavity and throat 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

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 breathing device that varies airway pressure to assist breathing and expiration
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

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, ear, 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 that uses a face mask, nasal prongs, or an endotracheal tube to assist breathing by increasing lung volume

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; sometimes used as a synonym for Hurler syndrome (MPS I)

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
Otolaryngologist: medical doctor who specializes in the diagnosis and treatment of diseases affecting the ear, nose, and throat
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
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

fibroblast: type of cell in connective tissue that is capable of forming collagen fibers
first-degree relative: parent, child, or sibling

GAG: 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 (GAG): 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

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 GAG 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

iduronate-2-sulfatase (I2S): enzyme that is involved in the first step in the breakdown of the GAG dermatan sulfate and heparan sulfate and that is deficient or missing in Hunter syndrome
idursulfase (ELAPRASE™): enzyme identical to natural iduronate-2-sulfatase produced in a human cell line and purified for administration as ERT for patients with Hunter syndrome
infusion: introduction of a fluid other than blood 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

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

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: class of lysosomal storage disease that is different, from but may be confused with, MPS
mucopolysaccharide: protein polysaccharide complex; glycosaminoglycan (GAG); breakdown product of proteoglycan
mucopolysaccharidoses (MPS): group of inherited diseases resulting from the abnormal accumulation of GAG or mucopolysaccharides due to a deficiency or lack of the enzyme needed to process the GAG
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 sequence that subsequently can be inherited

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

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
otolaryngologist: medical doctor who specialize in the diagnosis and treatment of diseases affecting the ear and throat, often including the upper respiratory and digestive tracts
otorhinolaryngologist: 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

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 psychologic disorders
psychologist: professional licensed to evaluate and treat psychologic 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

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 which is expressed only in the absence of a normal allele
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

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 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

tendon: fibrous tissue that connects muscle to bone
tonsil: tissue in the nasal cavity and 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 (T) 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

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

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 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 chromosome: sex chromosome that determines maleness

ELAPRASE™ (idursulfase)

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