| CGKD | complex glycerol kinase deficiency |
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| CIDS | cellular immunity deficiency syndrome; circular intensity differential scattering; continuous insuli... |
| CLD | chloride diarrhea; chronic liver disease; chronic lung disease; congenital limb deficiency; crystal ... |
| CMD | campomelic dysplasia; camptomelic dwarfism; cartilage matrix deficiency; chief medical director; chi... |
| CuD | copper deficiency |
J acid
lanosterol
| fructose-1,6-diphosphatase deficiency | An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycaemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal. (12 Dec 1998) |
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| leukocyte adhesion deficiency | An inherited disorder (autosomal recessive) in which there is a defective CD18 adherence complex that disturbs leukocyte chemotaxis. It is characterised by recurrent bacterial infections and impaired wound healing. (05 Mar 2000) |
| leukocyte-adhesion deficiency syndrome | <syndrome> Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (receptors, leukocyte-adhesion) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterised by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (12 Dec 1998) |
| lipoprotein lipase deficiency, familial | A rare familial condition characterised by massive chylomicronaemia and decreased levels of other lipoproteins. It is due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyses an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. (12 Dec 1998) |
| luteal phase deficiency | Inadequate function of the corpus luteum that may prevent a fertilized egg from implanting in the uterus or may lead to early pregnancy loss. (09 Oct 1997) |
| achlorhydric anaemia | A form of chronic hypochromic microcytic anaemia associated with achlorhydria or achylia gastrica; observed most frequently in women in the third to fifth decades. Synonym: Faber's anaemia, Faber's syndrome. (05 Mar 2000) |
| achrestic anaemia | A form of chronic progressive macrocytic anaemia that can be fatal in which the changes in bone marrow and circulating blood closely resemble those of pernicious anaemia, but in which there is only transient or no response to therapy with vitamin B12; glossitis, gastrointestinal disturbances, central nervous system disease, and pyrexia are not observed, and there is only little bleeding or haemolysis. Origin: G. A-priv. + chresis, a using (05 Mar 2000) |
| acquired haemolytic anaemia | Nonhereditary acute or chronic anaemia associated with or caused by extracorpuscular factors, e.g., certain infectious agents, chemicals (including autoantibodies or therapeutic agents), burns, toxic materials from higher plant and animal forms (including snake venoms). (05 Mar 2000) |
| addisonian anaemia | <haematology> A form of anaemia (low red blood cell counts) that results when the bone marrow fails to produce adequate numbers of red blood cells due to a deficiency in vitamin B12. Intrinsic factor, necessary for normal B12 absorption, may be the underlying cause for B12 deficiency if is not produced in the gastric glands (in the stomach). Origin: Gr. Haima = blood (27 Sep 1997) |
| Addison's anaemia | <haematology> A form of anaemia (low red blood cell counts) that results when the bone marrow fails to produce adequate numbers of red blood cells due to a deficiency in vitamin B12. Intrinsic factor, necessary for normal B12 absorption, may be the underlying cause for B12 deficiency if is not produced in the gastric glands (in the stomach). Origin: Gr. Haima = blood (27 Sep 1997) |
| anaemia | <haematology> Too few red blood cells in the bloodstream, resulting in insufficient oxygen to tissues and organs. Origin: Gr. Haima = blood (16 Dec 1997) |
| anaemia, aplastic | A form of anaemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. (12 Dec 1998) |
| anaemia, Cooley's | Better known today as thalassaemia (or as beta thalassaemia or thalassaemia major).The clinical picture of this important type of anaemia was first described in 1925 by the paediatrician Thomas Benton Cooley. Another name for the disease is Mediterranean anaemia. The name thalassaemia was coined by the Nobel Prise winning pathologist George Whipple and the professor of paediatrics Wm Bradford at Univ. Of Rochester because thalassa in Greek means the sea (like the Mediterrranean Sea) + -aemia means in the blood so thalassaemia means sea in the blood. Thalassaemia is not just one disease. It is a complex contingent of genetic (inherited) disorders all of which involve underproduction of haemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of normal adult haemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassaemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of haemoglobin, and profound anaemia. The gene for beta thalassaemia is relatively frequent in people of Mediterranean origin (for example, from Italy and Greece). Children with this disease inherit one gene for it from each parent. The parents are carriers (heterozygotes) with just one thalassaemia gene, are said to have thalassaemia minor, and are essentially normal. Their children affected with beta thalassaemia seem entirely normal at birth because at birth we still have predominantly foetal haemoglobin which does not contain beta chains. The anaemia surfaces in the first few months after birth and becomes progressively more severe leading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due to infections) and diarrhoea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease. (12 Dec 1998) |
| anaemia, dyserythropoietic, congenital | A familial disorder characterised by anaemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors. Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) |
| anaemia gravis | <haematology> This form of anaemia occurs when the bone marrow ceases sufficient red and white blood cell production. It may be induced by exposures to high levels of toxic chemicals, radiation and certain drugs. It is generally unresponsive to specific therapy, often accompanied by granulocytopenia and thrombocytopenia, in which the bone marrow may not necessarily be hypocellular or hypoplastic but fails to produce adequate numbers of peripheral blood elements. The term actually is all inclusive and most probably encompasses several clinical syndromes. Origin: Gr. Haima = blood (29 Sep 1997) |