Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these am...

Cryptococcus is a fungus that is found in soil all over the world, usually in association with bird droppings. Cryptococcus neoformans is the most common Cryptococcus species that causes illness in humans. Cryptococcus gattii, a less common specie...

Cysticercosis (pork tapeworm infection) facts Cysticercosis is a parasitic disease caused by ingesting the eggs of the pork tapeworm, Taenia solium. Humans are infected by ingesting raw or undercooked pork, and cysticercos...

Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects ch...

Formaldehyde is a transitional molecule that participates in a wide range of biological activities. It can be found in a variety of everyday items, including meals. It's also used in medicine to treat a variety of ailments. Formalin is a 40 percen...

Hemolytic uremic syndrome (HUS) is a condition caused by the abnormal destruction of red blood cells. The damaged red blood cells clog the filtering system in the kidneys, which can lead to life-threatening kidney failure. HUS usually deve...

Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and remova...

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of n...

High blood sugar (hyperglycemia) affects people who have diabetes. Several facto...

Cogan-Reese Syndrome is an extremely rare eye disorder characterized by a matted or smudged appearance to the surface of the iris; the development of small colored lumps on the iris (nodular iris nevi); the attachment of portions of the iris to th...

N-acetylglutamate synthetase (NAGS) deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme N-acetylglutamate synthetase (NAGS). NAGS is one of six enzymes that play a role in the break down and removal of nit...

Nonketotic hyperglycinemia is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF). The metabolic block occurs in the conversion...

Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include impro...

Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects ch...

Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in so...

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Valinemia is a very rare metabolic disorder. It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase. This enzyme is needed in the breakdown (metabolism) of va...

Cutis marmorata telangiectatica congenita (CMTC) is a rare inherited disorder characterized by discolored patches of skin caused by widened (dilated) surface blood vessels. As a result, the skin has a purple or blue "marbled" or "fishnet" appearan...

WAGR syndrome/11p deletion syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. "WAGR" is an acronym for the ch...