Medical Dictionary Definitions A-Z List
Medical Dictionary Definitions A - Z - «D»:
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Deficiency, alpha-1 antitrypsin
Deficiency, alpha-1 antitrypsin: See: Alpha-1 antitrypsin deficiency....
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Deficiency, alpha-galactosidase A
Deficiency, alpha-galactosidase A: See: Fabry disease....
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Deficiency, ankyrin
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.
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Deficiency, calcium
Deficiency, calcium: See: Calcium deficiency....
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Deficiency, ceruloplasmin
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 i...
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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.
The skin changes in th...
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Deficiency, FAO
Deficiency, 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 mental retardation.
The skin changes in the S...
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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 (spasticity of the legs) and mental retardat...
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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 (spasticity of the legs) and mental retardation.
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Deficiency, GALT
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 ...
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Deficiency, glucocerebrosidase
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, li...
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Deficiency, glucose-6-phosphate dehydrogenase
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 anemia due to breakup of their red blood cells w...
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Deficiency, hex-A
Deficiency, hex-A: See: Tay-Sachs disease....
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Deficiency, hexosaminidase A
Deficiency, hexosaminidase A: See: Tay-Sachs disease....
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Deficiency, iron
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...
