An organic acid that is found in the blood and urine. 3-Methylglutaconic aciduria is a disorder that impairs the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3 methylglutaric acid build up and be detected in the urine. 3-MGA type II is generally used to describe the type of 3-MGA found in organic acid profiles of those who have Barth syndrome.

A measure of the number of mature neutrophil granulocytes (also known as polymorphonuclear cells, PMN's, polys, granulocytes, segmented neutrophils or segs) and immature neutrophils (bands) present in the blood.

The process of absorbing or assimilating substances (e.g., food and medications) into cells or across tissues and organs through bio-chemical processes in the body.

Angiotensin converting enzyme (ACE) is an enzyme produced in the body to help regulate blood pressure. ACE inhibitors expand blood vessels and decrease resistance by lowering levels of angiotensin II. Allows blood to flow more easily and makes the heart's work easier or more efficient. Commonly prescribed include: Benazepril (Lotensin), Captopril (Capoten), Enalopril (Vasotec), Fosinopril (Monopril), Lisinopril (Prinivil, Zestril), Moexipril (Univasc), Peridopril (Aceon), Quinapril (Accupril), Ramipril (Altace) and Trandolapril (Mavik)

Addison's disease (also chronic adrenal insufficiency, hypocortisolism, and hypoadrenalism) is a rare, chronic endocrine disorder in which the adrenal glands do not produce sufficient steroid hormones (glucocorticoids and often mineralcorticoids).

A condition in which the adrenal glands, located above the kidneys, do not produce adequate amounts of steroid hormones (chemicals produced by the body that regulate organ function), primarily cortisol; but may also include impaired production of aldosterone (a mineralcorticoid), which regulates sodium conservation, potassium secretion, and water retention.

A device implanted in the body that detects heart arrhythmias and counters them with an electric shock that resets the heart's rhythm.

A medical practitioner who specializes in the treatment of allergies or immune system responses. An allergist is sometimes referred to as an immunologist.

An allergic response is an extreme immunological response when the body is hypersensitive to an allergen. In some cases if left untreated an allergic response can be lethal. Allergic symptoms include hives, swelling, itchy skin, itchiness/tingling in the mouth, metallic taste in the mouth, coughing, trouble breathing or wheezing, throat tightness, diarrhea, vomiting.

Skin prick using small amounts of suspect allergy triggers through the skin of the arm or back by pricking or puncturing the skin with a needle or similar device are the most commonly used allergy tests. The RAST (radioallergosorbent test) and related blood tests use radioactive or enzyme markers to detect levels of IgE antibodies are used when a skin test is difficult due to: A widespread skin rash, anxiety about skin pricks and/or potential for a sudden and severe allergic response to test allergens.

A substance that reduces or eliminates pain (Also called pain killers or pain medication).

A condition marked by a deficiency of red blood cells or of hemoglobin in the blood, resulting in pallor and weariness.

An excessive localized enlargement of an artery caused by a weakening of the artery wall.

A substance that neutralizes stomach acid. Antacids come in various forms: Aluminum salts, calcium salts, magnesium salts and sodium bicarbonate. Commonly prescribed aluminum salts include, aluminum carbonate: Basaljel, hydroxide salt: AlternaGEL, combination products (aluminum and magnesium): Gaviscon, Maalox, Mylanta, Di-Gel. Commonly prescribed magnesium salts include, hydroxide salt: magnesium hydroxide (MOM), carbonate salt: Gaviscon (also a combination product) and combination products such as Maalox, Mylanta (aluminum and magnesium)

A substance used to reduce the inflammatory response to infectious agents, trauma, surgical procedures or in musculoskeletal disease.

A substance used to treat an abnormal heart rhythm. Commonly prescribed include: amiodarone (Cordarone, Pacerone) bepridil hydrochloride (Vascor), disopyramide (Norpace), dofetilide (Tikosyn), dronedarone (Multaq), flecainide (Tambocor), ibutilide (Corvert), lidocaine (Xylocaine), procainamide (Procan, Procanbid), propafenone (Rythmol), propranolol (Inderal), quinidine (many trade names), sotalol (Betapace) and tocainide (Tonocarid)

A substance (such as penicillin or its derivatives) that inhibits the growth of or destroys harmful microorganisms.

A substance that decreases the clotting (coagulating) ability of the blood. Sometimes called blood thinners, although they do not actually thin the blood. They do NOT dissolve existing blood clots. Commonly prescribed include: Dalteparin (fragmin), Danaparoid (Orgaran), Enoxaparin (Lovenox), Heparin (various), Tinzaparin (Innohep) and Warfarin (Coumadin).

A substance used to prevent or treat diarrhea. Antidiarrheal medications come in various forms. Intestinal flora modifiers: L. acidophilus (Lactinex): Opiates: paregoric, opium tincture, codeine, loperamide (Imodium), diphenoxylate (Lomotil): Adsorbents: bismuth subsalicylate (Pepto-Bismol), kaolin-pectin, activated charcoal, attapulgite (Kaopectate) and Anticholinergics: belladonna alkaloids (Donnatal), atropine

A substance taken to prevent or treat nausea and/or vomiting. Antiemetic medications come in various forms. Anticholinergic agents (ACh blockers): Scopolamine: Antihistamine agents (H1 receptor blockers): Diphenhydramine (Benadryl), meclizine (Antivert), promethazine (Phenergan): Neuroleptic agents: chlorpromazine (Thorazine), prochlorperazine (Compazine): Prokinetic agents: Metoclopramide (Reglan): Serotonin blockers: Dolasetron (Anzemet), granisetron (Kytril), ondansetron (Zofran) and Tetrahydrocannabinoids: dronabinol (Marinol)

Any outside substance that causes an immune response.

A medication or other therapy that lowers blood pressure.

Keeps blood clots from forming by preventing blood platelets from sticking together. Commonly prescribed include: Aspirin, Ticlopidine, Clopidogrel and Dipridamole.

Incapacity resulting from a cerebral hemorrhage or stroke.

A drug used to prevent levels of angiotensin II from having any effects on the heart and blood vessels. This keeps blood pressure from rising. Angiotensin II receptor blockers (or inhibitors) are also known as ARBs, Angiotensin-2 receptor antagonists and AT-2. Commonly prescribed include: Candesartan (Atacand), Eprosartan (Teveten), Irbesartan (Avapro), Losartan (Cozaar), Telmisartan (Micardis) and Valsartan (Diovan).

An abnormal rhythm of the heart.

A blood vessel that carries oxygen-rich blood away from the heart to the body.

When a person with swollen or irritated airways has trouble breathing normally because not enough oxygen is going into their lungs.

The chamber of the heart that collects blood returning from the rest of the body. In all vertebrates but fish, there are two atria, left and right. The right atrium collects deoxygenated blood from the body and passes it to the right ventricle. The left atrium collects oxygenated blood from the lungs and passes it to the left ventricle.

Pertaining to autoimmunity, a misdirected immune response that occurs when the immune system goes awry and attacks the body itself.

A portable electronic device that automatically diagnoses the potentially life-threatening cardiac arrhythmias of ventricular fibrillation and ventricular tachycardia in a patient, and is able to treat them through defibrillation, the application of electrical therapy which stops the arrhythmia, allowing the heart to reestablish an effective rhythm.

A technique that uses X-ray film to visualize radioactively labeled molecules or fragments of molecules; used in analyzing length and number of DNA fragments after they are separated by gel electrophoresis.

A tiny single celled microorganism.

A barium swallow test is also known as esophagography, an imaging procedure used to examine the upper gastrointestinal tract, which includes the esophagus and, to a lesser extent, the stomach.

A ventricular assist device (VAD) is a mechanical circulatory device that is used to partially or completely replace the function of a failing heart.

A drug that reduces the heart rate and cardiac output, which lowers blood pressure and makes the heart beat slowly with less force. Beta-blockers are also known as beta-adrenergic blocking agents. Commonly prescribed include Acebutolol (Sectral), Atenolol (Tenormin), Betaxolol (Kerlone), Bisoprolol/ hydrochlorothiazide (Ziac), Bisoprolol (Zebeta), Carteolol (Cartrol), Metoprolol (Lopressor, Toprol XL), Nadolol (Corgard), Propranolol (Inderal), Sotalol (Betapace) and Timolol (Blocadren)

The procedure of taking a small tissue sample (i.e., heart, muscle, bone marrow, etc.) for examination.

A gelatinous or semisolid mass of coagulated blood.

A blood test that measures the concentration of oxygen in the blood.

Blood pressure, sometimes referred to as arterial blood pressure, is the pressure exerted by circulating blood upon the walls of blood vessels, and is one of the principal vital signs.

A tubular structure carrying blood through tissues and organs; a vein, artery, or capillary.

See anti-coagulant.

An specialized x-ray of the left hand and wrist that is used to measure the degree of skeletal maturity. A bone age assesses the state of development or decline of the skeleton or its segments in comparison with x-ray views of bone structures of other individuals of the same chronological age.

The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells.

Inflammation of the mucous membrane in the bronchial tubes.

Bundle branch block (BBB) is a disruption in the normal flow of electrical pulses that drive the heart-beat.

A low blood level of calcium (hypocalcemia), which can make the vervous system highly irritable, causing spasms of the hands and feet, muscle cramps, abdominal cramps, overly active reflexes. Chronic calcium deficiency contributes to poor mineralization of bones, soft bones (osteomalacia) and osteoporosis and impaired growth.

An invasive procedure using a heating or freezing technique to remove abnormal tissue within the heart that causes a faulty electrical pathway to treat certain cardiac arrhythmia conditions.

The sudden stop of the heartbeat.

A diagnostic procedure in which a tiny, hollow tube (catheter) is inserted into an artery to go to the heart in order to image the heart and blood vessels.