| 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 |
| 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) |
| adipokinetic hormone | An anterior pituitary hormone that causes mobilization of fat from adipose tissue. Synonym: adipokinetic hormone. (05 Mar 2000) |
| adrenal androgen-stimulating hormone | A putative pituitary hormone that may be responsible for increased secretion of adrenal androgens at the time of puberty. (05 Mar 2000) |
| adrenocorticotrophic hormone | <endocrinology> A peptide hormone that is produced by the anterior pituitary gland. It stimulates the adrenal cortex to secrete glucocorticoid hormones, which help cells synthesise glucose, catabolize proteins, mobilizefree fatty acids and inhibit inflammation in allergic responses. (10 May 1997) |
| adrenocorticotropic hormone | The hormone of the anterior lobe of the hypophysis which governs the nutrition and growth of the adrenal cortex, stimulates it to functional activity, and also possesses extraadrenal adipokinetic activity; it is a polypeptide containing 39 amino acids, but exact structure varies from one species to another; sometimes prefixed by a to distinguish it from beta-corticotropin. The first thirteen amino acids at the N-terminal region are identical to alpha-melanotropin. Synonym: adrenocorticotropin, adrenotropic hormone, adrenotropin, corticotropic hormone, corticotropin. (05 Mar 2000) |
| adrenotropic hormone | The hormone of the anterior lobe of the hypophysis which governs the nutrition and growth of the adrenal cortex, stimulates it to functional activity, and also possesses extraadrenal adipokinetic activity; it is a polypeptide containing 39 amino acids, but exact structure varies from one species to another; sometimes prefixed by a to distinguish it from beta-corticotropin. The first thirteen amino acids at the N-terminal region are identical to alpha-melanotropin. Synonym: adrenocorticotropin, adrenotropic hormone, adrenotropin, corticotropic hormone, corticotropin. (05 Mar 2000) |
| androgenic hormone | <endocrinology> A male (masculinising) hormone. These medications (testosterone, methyltestosterone, fluoxymesterone, danazol) are used to treat androgen deficiency, delayed puberty in males and some forms of breast cancer. (27 Sep 1997) |
| anterior pituitary-like hormone | A glycoprotein with a carbohydrate fraction composed of d-galactose and hexosamine, extracted from the urine of pregnant women and produced by the placental trophoblastic cells; its most important role appears to be stimulation, during the first trimester, of ovarian secretion of the oestrogen and progesterone required for the integrity of conceptus; it appears to play no significant role in the last two trimesters of pregnancy, as the oestrogen and progesterone are then formed by the placenta. Synonym: anterior pituitary-like hormone, choriogonadotropin, chorionic gonadotropic hormone, chorionic gonadotrophic hormone, placenta gonadotropin, placentagonadotropin. (05 Mar 2000) |
| antidiuretic hormone | <endocrinology> A peptide hormone released from the posterior pituitary lobe but synthesised in the hypothalamus. There are 2 forms, differing only in the amino acid at position 8: arginine vasopressin is widespread, while lysine vasopressin is found in pigs. Has antidiuretic and vasopressor actions. Used in the treatment of diabetes insipidus. Acronym: ADH (13 Nov 1997) |