| proximal femoral focal deficiency | A congenital defect in which variable portions of the upper end of the femur are reduced or absent. (05 Mar 2000) |
|---|---|
| pseudocholinesterase deficiency | 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. (05 Mar 2000) |
| secondary antibody deficiency | Immunodeficiency in which there is no evident defect in the lymphoid tissues, but rather hypercatabolism or loss of immunoglobulins such as occurs in familial idiopathic hypercatabolic hypoproteinaemia or in defects associated with the nephrotic syndrome. Synonym: secondary agammaglobulinaemia, secondary antibody deficiency, secondary hypogammaglobulinaemia. (05 Mar 2000) |
| selective immunoglobulin A deficiency | <immunology> An inherited disorder in which there is a markedly reduced or absent IgA, resulting in immature IgA-bearing B-cells. (05 Mar 2000) |
| selenium deficiency | 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 academy of sciences, the recommended dietary allowances of selenium are 70 milligrams per day for men and 55 milligrams per day for women. Food sources of selenium include seafoods, some meats such as kidney and liver, and some grains and seeds (12 Dec 1998) |
| pyridoxine deficiency | A nutritional condition produced by a deficiency of pyridoxine in the diet, characterised by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhoea, anaemia, and seizures. Increasingly recognised as a cause is prolonged therapy with certain medications, among them isoniazid, cycloserine, and l-dopa. (12 Dec 1998) |
| pyruvate carboxylase deficiency | An autosomal recessive pyruvate metabolism disorder resulting from absent or deficient expression of pyruvate carboxylase activity. Decreased production of oxaloacetate leads to decreased gluconeogenesis, thereby causing fasting hypoglycaemia, lactic acid acidosis, and decreased synthesis of amino acid neurotransmitters. Clinical presentations include acidosis, ataxia, mental retardation; sometimes co-occurs with leigh disease. (12 Dec 1998) |
| pyruvate dehydrogenase complex deficiency | An autosomal recessive pyruvate metabolism disorder resulting from deficient enzyme activity in one of several proteins of pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA. Deficiency in acetyl CoA product reduces the synthesis of acetylcholine, thereby causing neurological abnormalities. Clinical presentations include lactic acidosis, mental retardation, and ataxia. (12 Dec 1998) |
| pyruvate kinase deficiency | A disorder in which there is a deficiency of pyruvate kinase in red blood cells; characterised by haemolytic anaemia varying in degree from one patient to another; autosomal recessive inheritance. (05 Mar 2000) |
| hypoxanthine guanine phosphoribosyltransferase deficiency | A sex-linked inherited metabolic disorder; complete deficiency results in Lesch-Nyhan syndrome; incomplete deficiency is associated with acute gouty arthritis and renal stones. (05 Mar 2000) |
| steroid sulfatase deficiency | A form of ichthyosis, due to 3-beta-hydroxysteroidsulfate sulfatase deficiency, that appears at birth or in early infancy and affects males; characterised by scaling predominantly on the neck and trunk but not on the palms and soles; histologically, there is hyperkeratosis, a granular layer in the epidermis, and normal epidermal cell turnover. Synonym: steroid sulfatase deficiency. (05 Mar 2000) |
| niacin deficiency | <biochemistry> A niacin deficiency disease (pellagra) caused by improper diet and characterised by skin lesions, gastrointestinal disturbances and nervousness. Depression, dermatitis, dementia and diarrhoea are common symptoms. (27 Sep 1997) |
| debrancher deficiency | Type of glycogen storage disease, due to deficiency of amylo-1,4-1,6-transglucosidase (brancher enzyme). Synonym: brancher deficiency glycogenosis, debrancher deficiency. (05 Mar 2000) |
| deficiency | A lack or defect. (18 Nov 1997) |
| 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 very early age or in adulthood, as shortness of breath or liver-related symptoms (jaundice, fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding). There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant (12 Dec 1998) |