Deficiency, FALDH

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Deficiency, FALDH

Deficiency, FALDH

Also known as the Sjogren-Larsson syndrome, this is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish-like skin), spastic paraplegia (spasticity of the legs) and mental retardation.

RELATED TERMS
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Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.

Genetic
Hereditary. Having to do with the genes.

Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Triad
Triad is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): acetaminophen; butalbital; caffeine.

Clinical
That which can be observed in patients. Research that uses patients to test new treatments, as opposed to laboratory testing or research in animals.

Ichthyosis
An inherited skin disorder that produces dry, rough, scaly skin.

Paraplegia
Paraplegiai nvolves a loss of sensation and movement in the legs and in part or all of the trunk. This varies according to the level of the injury. Generally, the lower the injury, the less the loss of movement and sensation. Paraplegia usually results from an injury to the spinal cord in the mid and lower back.

Retardation
Delay or halt of any process such as mental or physical development.

SIMILAR TERMS
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Defiance Regional Medical Center
The Defiance Regional Medical Center is a hospital in Defiance, Ohio, United States.

Defibrillation
The use of a carefully controlled electric shock, administered either through a device on the exterior of the chest wall or directly to the exposed heart muscle, to restart or normalize heart rhythms.

Defibrillator
An electronic device used to establish normal heartbeat.

Defibrillator, implantable cardiac
A device put within the body that is designed to recognize certain types of abnormal heart rhythms (arrhythmias) and correct them.

Deficiency diseases
Any disorder caused by a lack of essential nutrients.

Deficiency, adenosine deaminase (ADA)
A genetic (inherited) condition that results in a immune deficiency disorder called severe combined immunodeficiency disease. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules.

Deficiency, ankyrin
Known also as hereditary spherocytosis (HS), this is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen), due to deficiency of ankyrin, a protein in the membrane of the red cell.

Deficiency, ceruloplasmin
Lack of the protein ceruloplasmin from the blood and accumulation of iron in the pancreas, liver and brain, causing diabetes and progressive nervous system degeneration with the tremors and gait abnormalities characteristic of Parkinson disease. Ceruloplasmin deficiency is agenetic condition, also known as aceruloplasminemia.

Deficiency, GALT
Lack of the enzyme called GALT (galactose-1-phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia, one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet.

Deficiency, glucocerebrosidase
Causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes.

Deficiency, glucose-6-phosphate dehydrogenase
Deficiency of G6PD is the commonest disease-causing enzyme defect in humans affecting an estimated 400 million people. The G6PD gene is on the X chromosome. Males with the enzyme deficiency develop anemia due to breakup of their red blood cells when they are exposed to oxidant drugs such as the antimalarial primaquine, the sulfonamide antibiotics or sulfones, naphthalene moth balls, or fava beans.

Deficiency, iron
The most common known form of nutritional disorder in the world, iron deficiency results in anemia because iron is necessary to make hemoglobin, key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anemia, the red cells appear abnormal and are unusually small (microcytic) and pale (hypochromic). The pallor of the red cells reflects their low hemoglobin content.

Deficiency, lactase
Not enough of an enzyme called lactase in the small intestine to digest lactose, a prominent component of milk and most other dairy products. Lactose is sometimes also used as an ingredient in other foods, so anyone with lactase deficiency should check food labels with care.

Deficiency, LCHAD
Acute fatty liver of pregnancy (AFLP) has been found to be associated in some cases with an abnormality of fatty-acid metabolism. This abnormality is a deficiency of the enzyme long-chain-3-hydroxyacyl-CoA dehydrogenease (LCHAD).

Deficiency, magnesium
Can occur due to inadequate intake or impaired intestinal absorption of magnesium. Low magnesium (hypomagnesemia) is often associated with low calcium (hypocalcemia) and potassium (hypokalemia) levels. Deficiency of magnesium causes increased irritability of the nervous system with tetany (spasms of the hands and feet, muscular twitching and cramps, spasm of the larynx, etc.).

Deficiency, protein C
Protein C is a protein in plasma that enters into the cascade of biochemical events leading to the formation of a clot. Deficiency of protein C results in thrombotic (clotting) disease.

Deficiency, selenium
Lack of the essential mineral selenium, which can cause Keshan disease, a fatal form of cardiomyopathy (disease of the heart muscle) that was first observed in Keshan province in China and has since found elsewhere. Treatment involves ensuring adequate selenium. The recommended dietary allowance (RDA) is currently 55 micrograms of selenium per day for adult men and women, 60 micrograms per day for women during pregnancy and 70 micrograms per day for women during lactation. Food sources of selenium include seafoods, some meats such as kidney and liver, and some grains and seeds.

Deficiency, sphingomyelinase
Also called Niemann-Pick disease, this is a disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), "swollen glands" (lymphadenopathy), anemia and mental and physical deterioration.

Deficiency, UDP-glucuronosyltransferase
Underactivity of a liver enzyme that is essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells).

Deficiency, zinc
According to the National Academy of Sciences, the Recommended Dietary Allowances of zinc are 12 milligrams per day for women and 10 milligrams per day for men. Food sources of zinc include meat including liver, eggs, seafood, nuts and cereal.

Definity
Definity is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): perflutren .

PREVIOUS AND NEXT TERMS
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Defibrillation
The use of a carefully controlled electric shock, administered either through a device on the exterior of the chest wall or directly to the exposed heart muscle, to restart or normalize heart rhythms.

Defibrillator, implantable cardiac
A device put within the body that is designed to recognize certain types of abnormal heart rhythms (arrhythmias) and correct them.

Deficiency, adenosine deaminase (ADA)
A genetic (inherited) condition that results in a immune deficiency disorder called severe combined immunodeficiency disease. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules.

Deficiency, ankyrin
Known also as hereditary spherocytosis (HS), this is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen), due to deficiency of ankyrin, a protein in the membrane of the red cell.

Deficiency, ceruloplasmin
Lack of the protein ceruloplasmin from the blood and accumulation of iron in the pancreas, liver and brain, causing diabetes and progressive nervous system degeneration with the tremors and gait abnormalities characteristic of Parkinson disease. Ceruloplasmin deficiency is agenetic condition, also known as aceruloplasminemia.

Deficiency, FALDH

Deficiency, GALT
Lack of the enzyme called GALT (galactose-1-phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia, one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet.

Deficiency, glucocerebrosidase
Causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes.

Deficiency, glucose-6-phosphate dehydrogenase
Deficiency of G6PD is the commonest disease-causing enzyme defect in humans affecting an estimated 400 million people. The G6PD gene is on the X chromosome. Males with the enzyme deficiency develop anemia due to breakup of their red blood cells when they are exposed to oxidant drugs such as the antimalarial primaquine, the sulfonamide antibiotics or sulfones, naphthalene moth balls, or fava beans.

Deficiency, iron
The most common known form of nutritional disorder in the world, iron deficiency results in anemia because iron is necessary to make hemoglobin, key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anemia, the red cells appear abnormal and are unusually small (microcytic) and pale (hypochromic). The pallor of the red cells reflects their low hemoglobin content.

Deficiency, lactase
Not enough of an enzyme called lactase in the small intestine to digest lactose, a prominent component of milk and most other dairy products. Lactose is sometimes also used as an ingredient in other foods, so anyone with lactase deficiency should check food labels with care.

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