Medical Dictionary Terms Beginning with D
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Deficiency, adenosine deaminase (ADA)
Deficiency, adenosine deaminase (ADA):
A genetic (autosomal recessive) condition that results
in a immune deficiency disorder (severe combined
immunodeficiency disease). The first successful gene
therapy in humans was done in 1990 by W, French And
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Deficiency, alpha-1 antitrypsin
Deficiency, alpha-1 antitrypsin: An inherited disease
with little or no production of an important protein, alpha-1 antitrypsin. The lack of
this protein leads to damage of various organs, mainly the lung and liver. The disease may
become apparent at a
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Deficiency, calcium
Deficiency, calcium: A low blood calcium
(hypocalcemia). Hypocalcemia makes the nervous system highly irritable with tetany (spasms
of the hands and feet, muscle cramps, abdominal cramps, overly active reflexes, etc.).
Chronic calcium deficiency contri
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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) an
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Deficiency, FAO
Deficency, FAO: 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 me
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Deficiency, fatty alcohol:NAD+ oxidoreductase
Deficiency, fatty alcohol:NAD+ oxidoreductase: 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
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Deficiency, fatty aldehyde dehydrogenase
Deficiency, fatty aldehyde dehydrogenase: 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 (spas
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Deficiency, glucocerebrosidase
Deficiency, glucocerebrosidase: Causes Gauchers
disease (type 1), a progressive genetic disease, due to an enzyme defect. The enzyme,
glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme
defect in persons with Gau
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Deficiency, glucose-6-phosphate dehydrogenase (G6P
Deficiency, glucose-6-phosphate dehydrogenase (G6PD): 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
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Deficiency, hex-A
Deficiency, hex-A: Deficiency of
hexosaminidase A. This causes a disorder known as Tay-Sachs
disease (TSD) which is concisely defined by OMIM (Online
Mendelian Inheritance in Man) as ôan autosomal recessive,
progressive neurodegenerative disorder,
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Deficiency, hexosaminidase A
Deficiency, hexosaminidase A:
Deficiency of hexosaminidase A causes a disorder known as
Tay-Sachs disease (TSD) which is concisely defined by OMIM
(Online Mendelian Inheritance in Man) as ôan autosomal
recessive, progressive neurodegenerative diso
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Deficiency, iron
Deficiency, iron: Deficiency of iron results in anemia
because iron is necessary to make hemoglobin, the key molecule in red blood cells
responsible for the transport of oxygen. In iron deficiency anemia, the red cells are
unusally small (microcytic) a
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Deficiency, lactase
Deficiency, lactase: Lack of an enzyme called
lactase in
the small intestine that is needed to digest lactose, a
component of milk and some other dairy products.
Most people are born with the ability to make adequate amounts of
lactase but lact
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Deficiency, magnesium
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 cau
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Deficiency, niacin
Deficiency, niacin: Deficiency of
niacin, one of the B-complex vitamins, causes pellagra.
Pellagra was known as the "disease of the four D's" -- dermatitis,
diarrhea, dementia and death. The disease is specifically
characterized by:
Dermatitis: A
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Deficiency, protein C
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.
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Deficiency, selenium
Deficiency, selenium: Deficiency of the essential
mineral selenium causes Keshan disease, a fatal form of cardiomyopathy (disease of the
heart muscle) first observed in Keshan province in China and since found elsewhere.
According to the National Acade
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Deficiency, UDP-glucuronosyltransferase
Defiency, 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).
The deficiency of this enzyme (UDP-glucurono
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Deficiency, zinc
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 a
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Deformation
Deformation: A change from the normal size or shape. Also called
deformity. A deformation can be present at birth (congenital) or develop after birth
(acquired).
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