An insufficient quantity of something, substance (as in dietary d., hemoglobin d. as in marrow aplasia), organization (as in mental d.), activity (as in enzyme d. or oxygen-carrying capacity of the blood), etc., that available is of normal quality. See also deficiency disease. [L. deficio, to fail, fr. facio, to do]
adult lactase d. onset of lactase d., with resulting milk intolerance and malabsorption, in adulthood. Inherited forms may not be manifested until adulthood; any process that damages the intestinal lining cells can cause lactase d. in adults.
antitrypsin d. d. of a1-antitrypsin, a glycoprotein of the postalbumin region of human serum. Many forms are known which may be moderate (40 to 60% of normal activity) or severe (less than 10% of normal), all autosomal dominant; the severe form is often associated with familial emphysema or hepatic cirrhosis.
arch length d. the difference between the available circumference of the dental arch and that required to accommodate the succedaneous teeth in proper alignment.
debrancher d. brancher glycogen storage disease
familial high density lipoprotein d. analphalipoproteinemia
galactokinase d. [MIM*230200] an inborn error of metabolism due to congenital d. of galactokinase, resulting in increased blood galactose concentration (galactosemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance. Galactose epimerase d. [MIM 230350] and galactose-1-phosphate uridyl transferase d. [MIM 230400] produce much the same clinical picture.
glucose-6-phosphate dehydrogenase d. a d. of glucose-6-phosphate dehydrogenase, an enzyme important for maintaining cellular concentrations of reduced nucleotides. An X-linked disorder with various polymorphic forms, it can cause a variety of anemias including favism, primaquine sensitivity and other drug sensitivity anemias, anemia of the newborn, and chronic nonspherocytic hemolytic anemia.
glucosephosphate isomerase d. [MIM*172400] an enzyme d. characterized by chronic nonspherocytic hemolytic anemia; autosomal recessive inheritance.phosphohexose isomerase d;
beta-d-glucuronidase d. a rare d. of beta-d-glucuronidase; an autosomal recessive disorder with several allelic forms, characterized by abnormal mucopolysaccharide metabolism leading to progressive mental deterioration, splenic and hepatic enlargement, and dysostosis multiplex.mucopolysaccharidase;
glutathione synthetase d. an inborn error of metabolism associated with massive urinary excretion of 5-oxyproline, elevated levels of 5-oxyproline in the blood and cerebrospinal fluid, severe metabolic acidosis, tendency toward hemolysis, and defective central nervous systems function. Glutathione synthetase d. has been reported as a generalized condition or with a d. restricted to erythrocytes.
hypoxanthine guanine phosphoribosyltransferase d. a sex-linked inherited metabolic disorder; complete d. results in Lesch-Nyhan syndrome; incomplete d. is associated with acute gouty arthritis and renal stones.
immune d. immunodeficiency
immunity d. immunodeficiency
immunological d. immunodeficiency
LCAT d. a rare condition characterized by corneal opacities, hemolytic anemia, proteinuria, renal insufficiency, and premature atherosclerosis, and very low levels of lecithin cholesterol acyltransferase (LCAT) activity; results in accumulation of unesterfied cholesterol in plasma and tissues.
d. adhesion deficiency (LAD) an inherited disorder (autosomal recessive) in which there is a defective CD18 adherence complex that disturbs d. chemotaxis. It is characterized by recurrent bacterial infections and impaired wound healing.
luteal phase d. luteal phase defect
mental d. mental retardation
muscle phosphorylase d. type V glycogen storage disease, affecting muscle, caused by d. of muscle phosphorylase.
phosphohexose isomerase d. glucosephosphate isomerase d
placental sulfatase d. an enzyme defect in the placenta which results in failure of conversion of 16a-hydroxydehydroepiandrosterone to estriol; women with this condition rarely enter into spontaneous labor.
a-1-proteinase d. absence of a serum proteinase inhibitor that may cause nodular non-suppurative panniculitis.
proximal femoral focal d. (PFFD) a congenital defect in which variable portions of the upper end of the femur are reduced or absent.
pseudocholinesterase d. [MIM*177400] an autosomal dominant disorder manifested by exaggerated responses to drugs ordinarily hydrolyzed by serum pseudocholinesterase (e.g., succinylcholine); believed to entail production of a variant enzyme that is less active than the normal enzyme in hydrolyzing appropriate substrates, but also abnormally resistant to the effects of anticholinesterases.
pyruvate kinase d. [MIM*166200] a disorder in which there is a d. of pyruvate kinase in red blood cells; characterized by hemolytic anemia varying in degree from one patient to another; autosomal recessive inheritance.
riboflavin d. See ariboflavinosis.
secondary antibody d. secondary immunodeficiency
taste d. [MIM*171200] reduced or absent ability to detect a bitter taste in a group of compounds of which phenylthiocarbamide is the prototype, due to the homozygous state of a common allele. See also phenylthiourea.
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