| hepatophosphorylase deficiency glycogenosis | Glycogenosis due to hepatic glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in liver and leukocytes. Synonym: hepatophosphorylase deficiency glycogenosis, Hers' disease. (05 Mar 2000) |
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| protein c deficiency | 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 and excess platelets with recurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). The clot can break loose and travel through the blood stream (thromboembolism) to the lungs causing a pulmonary embolism, brain causing a stroke (cerebrovascular accident), heart causing an early heart attack, skin causing what in the newborn is called neonatal purpura fulminans, the adrenal gland causing haemorrhage with abdominal pain, abnormally low blood pressure (hypotension), and salt loss. Protein c deficiency is due to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possession of two such genes (homozygosity) is usually lethal. (12 Dec 1998) |
| protein deficiency | A nutritional condition produced by a deficiency of proteins in the diet, characterised by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (12 Dec 1998) |
| protein s deficiency | An autosomal dominant disorder showing decreased levels of plasma protein s antigen or activity, associated with venous thrombosis and pulmonary embolism. Protein s is a vitamin k-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated protein c (also a vitamin k-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein c deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (12 Dec 1998) |
| prothrombin deficiency | A congenital or acquired disorder of blood clotting where there is a deficiency of factor II (prothrombin), one of 20 necessary plasma proteins for normal blood coagulation. Acquired factor II deficiency may result from vitamin K deficiency, severe liver disease and anticoagulant drugs. Symptoms include abnormal bleeding, nosebleeds, abnormal menstrual bleeding, easy bruising and umbilical cord bleeding at birth. Treatment involves the infusion of fresh frozen plasma. Vitamin K may be administered in select cases. (27 Sep 1997) |
| 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 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) |