Deficiency, phenylalanine hydroxylase
Deficiency, phenylalanine hydroxylase: See Phenylalanine hydroxylase deficiency.
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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.
- Deficiency, selenium
Deficiency, selenium: Lack of the essential mineral selenium, which can cause Keshan disease, a fatal form of disease of the heart muscle (cardiomyopathy) that was first observed in Keshan province in China and has since been found elsewhere. Treatment involves ensuring intake of the recommended dietary allowance of selenium, currently 70 mg per day for […]
- Deficiency, sphingomyelinase
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. Niemann-Pick disease is hereditary and follows an autosomal recessive pattern. The parents are […]
- Deficiency, UDP-glucuronosyltransferase
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). The deficiency of this enzyme (UDP-glucuronosyltransferase) results in a condition called Gilbert’s disease in which there are mild elevations of bilirubin pigment in the blood. The […]
- Deficiency, vitamin K
Deficiency, vitamin K: A lack of vitamin K resulting in an increase in the clotting time of the blood, impaired clotting and a tendency to excessive bleeding. Blood clotting is delayed or prevented because vitamin K is unavailable to act as an essential element (a cofactor) in the body’s production of four necessary coagulation (clotting) […]