| SID | single intradermal [test]; Society for Investigative Dermatology; sucrase-isomaltase deficiency; sud... |
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| SSDD | steroid sulfatase deficiency disease |
| PDHC | Pyruvate De-Hydrogenase Complex |
| PK | 1) Poly Klinic 2) Pyruvate Kinase |
| SGPT | Serum Glutamate(Glutamic) Pyruvate(Pyruvic Acid) Transaminase = ALT |
| 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) |
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| 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) |
| deficiency anaemia | Any anaemia resulting from a dietary deficiency of materials essential to red blood cell formation, e.g., iron, vitamins (especially folic acid), protein. Synonym: deficiency anaemia. (05 Mar 2000) |
| deficiency, calcium | A low blood calcium (hypocalcaemia). Hypocalcaemia makes the nervous system highly irritable with tetany (spasms of the hands and feet, muscle cramps, abdominal cramps, overly active reflexes, etc.). Chronic calcium deficiency contributes to poor mineralization of bones, soft bones (osteomalacia) and osteoporosis; and, in children, rickets and impaired growth. Food sources of calcium include dairy foods, some leafy green vegetables such as broccoli and collards, canned salmon, clams, oysters, calcium-fortified foods, and tofu. According to the National Academy of Sciences, adequate intake of calcium is 1 gram daily for both men and women. The upper limit for calcium intake is 2.5 grams daily. (12 Dec 1998) |
| deficiency dermatitis and diarrhoea, zinc | 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) |
| deficiency diseases | A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (12 Dec 1998) |
| deficiency, glucocerebrosidase | Causes Gaucher's disease (type 1), a progressive genetic disease, due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's disease (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most common early sign is enlargement of the spleen (located in the upper left abdomen). Other signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The disease is a recessive trait. Both parents carry a GD gene and transmit it for their child with the disease. The parents' risk of a child with the disease is 1 in 4 with each pregnancy. This type of Gaucher's disease (noncerebral juvenile Gaucher's disease) is most common in Ashkenazi Jews (of European origin) and is the most common genetic disease among Jews in the United States. (12 Dec 1998) |
| deficiency, glucose-6-phosphate dehydrogenase | Deficiency of G6PD is the commonest disease-causing enzyme defect in humans affecting an estimated 400 million people. The G6PD gene is on the X chromosome. Males with the enzyme deficiency develop anaemia due to breakup of their red blood cells when they are exposed to oxidant drugs such as the antimalarial primaquine, the sulfonamide antibiotics or sulfones, naphthalene moth balls, or fava beans. (12 Dec 1998) |
| deficiency, iron | Deficiency of iron results in anaemia because iron is necessary to make haemoglobin, the key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anaemia, the red cells are unusally small (microcytic) and pale (hypochromic). Characteristic features of iron deficiency anaemia in children include failure to thrive (grow) and increased infections. The treatment of iron deficiency anaemia , whether it be in children or adults, is with iron and iron-containing foods. Food sources of iron include meat, poultry, eggs, vegetables and cereals (especially those fortified with iron). According to the National Academy of Sciences, the Recommended Dietary Allowances of iron are 15 milligrams per day for women and 10 milligrams per day for men. (12 Dec 1998) |
| deficiency, lactase | Lack of the enzyme lactase resulting in failure to digest lactose in milk (lactose intolerance). (12 Dec 1998) |
| deficiency, magnesium | Can occur due to inadequate intake or impaired intestinal absorption of magnesium. Low magnesium (hypomagnesaemia) is often associated with low calcium (hypocalcaemia) and potassium (hypokalaemia) levels. Deficiency of magnesium causes increased irritability of the nervous system with tetany (spasms of the hands and feet, muscular twitching and cramps, spasm of the larynx, etc.). According to the National Academy of Sciences, the Recommended Dietary Allowances of magnesium are 420milligrams per day for men and 320 milligrams per day for women. The upperlimit of magnesium as supplements is 350 milligrams daily, in addition to the magnesium from food and water. (12 Dec 1998) |
| deficiency mutant | Mutant with a nutritional requirement not present in the wild type organism. Synonym: defective organism, deficiency mutant. (05 Mar 2000) |