| SRS | schizophrenic residual state; sex reassignment surgery; Silver-Russell syndrome; simple repeat seque... |
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| TBXAS | thromboxane A synthase |
| TMS | thalium myocardial scintigraphy; thread mate system; thymidilate synthase; trapezoidocephaly-multipl... |
| UMPS | uridine monophosphate synthase |
| UROS | uroporphyrinogen synthase |
| 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) |
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| 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) |
| LCAT deficiency | A rare condition characterised by corneal opacities, haemolytic anaemia, 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. (05 Mar 2000) |
| lecithin acyltransferase deficiency | A disease characterised by deficiency or low levels of plasma lecithin cholesterol acyl transferase. Clinical manifestations include corneal opacity, anaemia, and proteinuria. (12 Dec 1998) |
| 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) |
| 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) |
| abequose synthase | <enzyme> Converts cdp-4-keto-3,6-dideoxy-d-glucose to cdp-3,6-dideoxy-d-galactose (cdp-abequose); requires NADPH, analogous to udp-glucose-4-epimerase Registry number: EC 5.1.3.- Synonym: rfbj gene product (26 Jun 1999) |