| MEDAC Syndrome | Multiple-Endocrine Deficiency Autoimmune-Candidiasis |
|---|---|
| MR | 1) Mitral Regurgitation = MI 2) Minor Response... |
| PKD | Pyruvate Kinase Deficiency |
| SCID | Severe Combined Immuno-Deficiency; 중증 복합 면역 결핍증 |
| WAGR syndrome | Wilms's Tumor Aniridia Genital Anomalies Me... |
| 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 dehydrogenase complex deficiency | An autosomal recessive pyruvate metabolism disorder resulting from deficient enzyme activity in one of several proteins of pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA. Deficiency in acetyl CoA product reduces the synthesis of acetylcholine, thereby causing neurological abnormalities. Clinical presentations include lactic acidosis, mental retardation, and ataxia. (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) |
| 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 disease | Any disease resulting from undernutrition or an inadequacy of calories, proteins, essential amino acids, fatty acids, vitamins, or trace minerals. (05 Mar 2000) |
| 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) |