| PKD | Pyruvate Kinase Deficiency |
|---|---|
| SCID | Severe Combined Immuno-Deficiency; 중증 복합 면역 결핍증 |
| WAGR syndrome | Wilms's Tumor Aniridia Genital Anomalies Me... |
| AAD | acute agitated delirium; alloxazine adenine dinucleotide; alpha-1-antitrypsin deficiency; American A... |
| AAMD | American Academy of Medical Directors; American Association of Mental Deficiency |
hypophosphatemic rickets (저인산 혈성 구루병, 저인산염 혈성 구루병
| thiamin deficiency | An endemic form of polyneuritis (nerve inflammation), due to an unbalanced diet, with a deficiency of vitamin B1(thiamin). Common in those who chronically abuse alcohol. Synonym: beriberi. (27 Sep 1997) |
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| thiamine deficiency | A nutritional condition produced by a deficiency of thiamine in the diet, characterised by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the united states most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, beriberi prevalence is very high. (12 Dec 1998) |
| thrombotic disease due to 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) |
| transferase deficiency galactosaemia | An autosomal recessive disorder in which there is a deficiency of galactose-1-phosphate uridylyltransferase (see main entry for galactosaemia). (05 Mar 2000) |
| epimerase deficiency galactosaemia | An inborn error in metabolism in which there is a deficiency of uridine diphosphate galactose 4-epimerase; galactose 1-phosphate accumulates. (05 Mar 2000) |
| yang deficiency | In the yin-yang system of philosophy and medicine, a lack of vital energy (called yangxu in chinese). It manifests itself in various systemic and organic diseases. (12 Dec 1998) |
| familial high density lipoprotein deficiency | Familial high {density lipoprotein deficiency}; a heritable disorder of lipid metabolism characterised by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray colour of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance. Synonym: familial high {density lipoprotein deficiency}, Tangier disease. Origin: G. An-, priv., + alpha, a, + lipoprotein + -aemia, blood (05 Mar 2000) |
| yin deficiency | In the yin-yang system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc.. (12 Dec 1998) |
| familial lipoprotein lipase deficiency | An rare inherited disorder where there is a deficiency of an enzyme (lipoprotein lipase) which breaks down fat molecules, causing the accumulation of fats or lipoproteins in the blood. Symptoms in infancy include abdominal pain (appears as if its colic), failure to thrive and skin lesions (xanthomas). (27 Sep 1997) |
| zinc deficiency | : Deficiency of zinc is associated with short stature, anaemia, increased pigmentation of skin (hyperpigmentation), enlarged liver and spleen (hepatosplenomegaly), impaired gonadal function (hypogonadism), impaired wound healing, and immune deficiency. (for a genetic disorder that impairs zinc uptake, please see acrodermatitis enteropathica). According to the national academy of sciences, the recommended dietary allowances of zinc are 12 milligrams per day for women and 10 milligrams per day for men. Food sources of zinc include meat including liver, eggs, seafood, nuts and cereal. (12 Dec 1998) |
| zinc deficiency dermatitis and diarrhoea | A genetic disease called acrodermatitis enteropathica is characterised by the simultaneous occurrence of skin inflammation (dermatitis) and diarrhoea. The skin on the cheeks, elbows and knees and tissue about the mouth and anus are inflammed. There is also balding of the scalp, eyebrows and lashes, delayed wound healing and recurrent bacterial and fungal infections due to immune deficiency. The key laboratory finding is an abnormally low blood zinc level reflecting impaired zinc uptake. Oral treatment with zinc is curative. (12 Dec 1998) |
| 17-hydroxylase deficiency syndrome | <syndrome> Congenital deficiency of adrenocortical, and possibly ovarian, steroid C-17a hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces hypertension and hypokalaemic alkalosis; absence of aldosterone secretion in such patients may indicate a multiple enzymic deficiency. (05 Mar 2000) |
| lactase deficiency | An intolerance to milk and dairy products due to a deficiency of lactase in the intestine. Lactase is a enzyme which breaks down milk sugar or lactose. This condition is common in adults and may affect as many as 70-90% of Asians, African Americans, Native Americans and Mediterranean populations. This condition may also develop as the result of an intestinal disease such as celiac sprue. Symptoms include abdominal cramps, bloating, nausea, weight loss and diarrhoea. Treatment involves removing milk products from the diet. For infant's see Lactofree or ProSobee. (27 Sep 1997) |
| folic acid deficiency | A nutritional condition produced by a deficiency of folic acid in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anaemia, macrocytic anaemia, and megaloblastic anaemia. It is indistinguishable from vitamin b 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in b 12 deficiency do not occur. (merck manual, 16th ed) (12 Dec 1998) |
| folic acid deficiency anaemia | Anaemia due to deficiency of folic acid, characterised by large-sized red blood cells (macrocytosis) and presence of large nuclei in erythroid precursor cells (megaloblasts) in the bone marrow. (05 Mar 2000) |