| ¿µ¹® | iron deficiency anemia | ÇÑ±Û | ö°áÇ̺óÇ÷ |
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| LAL | left axillary line; Limulus amebocyte lysate; low air loss; lysosomal acid lipase |
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| MD | Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major... |
| FHH | Familial Hypocalciuric Hypercalcemia = Familial Benign Hypercalcemia |
| FAD | familial Alzheimer dementia; familial autonomic dysfunction; fetal activity-acceleration determinati... |
| FAP | familial adenomatous polyposis; familial amyloid polyneuropathy; fatty acid polyunsaturated; fatty a... |
| LAL | Lysosomal acid lipase |
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| LAP | Lysosomal acid phosphatase |
| LSD | Lysosomal storage diseases |
| ML | mitochondrial lysosomal |
| ATLPL | Adipose tissue lipoprotein lipase |
| 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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| 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) |
| familial lipoprotein lipase inhibitor | An inhibitor found in certain individuals that inhibits lipoprotein lipase resulting in accumulation of chylomicrons, VLDL, and triacylglycerols; similar in symptoms to familial lipoprotein lipase deficiency. (05 Mar 2000) |
| 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) |
| inborn lysosomal disease | Inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler's syndrome or a lipopolysaccharide as in Gaucher's disease. (05 Mar 2000) |
| UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase | <enzyme> Fibroblasts from patients with i-cell (mucolipidosis II) and pseudo-hurler polydystrophy (mucolipidosis III) are deficient in above enzyme; for n-acetylglucosamine transferred to dolichyl phosphate see EC 2.7.8.15 Registry number: EC 2.7.8.17 Synonym: udpgnac gp gnac phosphotransferase, udpgnac phosphotransferase, uridine 5'-diphosphate-n-acetylglucosamine glycoprotein n-acetylglucosaminylphosphotransferase, n-acetylglucosamine-1-phosphotransferase, n-agapt, udp-n-acetylglucosamine-lysosomal glycoprotein n-acetylglucosaminylphosphotransferase, udp-acetylglucosamine-glycoprotein n-acetylglucosamine-1-phosphotransferase (26 Jun 1999) |
| UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase | <enzyme> An enzyme that participates in the posttranslational modification of a number of lysosomal proteins; a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy. (05 Mar 2000) |
| lysosomal disease | A disease due to inadequate functioning of a lysosomal enzyme; most such disease's are associated with a storage disease. (05 Mar 2000) |
| lysosomal diseases | Diseases (also called storage diseases) in which a deficiency of a particular lysosomal enzyme leads to accumulation of the undigested substrate for that enzyme within cells. Not immediately fatal, but within a few years lead to serious neurological and skeletal disorders and eventually to death. See: the following conditions: Hurler sundrome, Hunter syndrome, San Fillipo, Gaucher's disease, Niemann-Pick, Pompe's disease, Tay Sachs disease. (18 Nov 1997) |
| lysosomal enzyme | <biochemistry> A range of degradative enzymes, most of which operate best at acid pH. The best known marker enzymes are acid phosphatase and glucuronidase, but many others are known. (18 Nov 1997) |
| lysosomal storage diseases | Inborn errors of metabolism characterised by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolised substrates. (12 Dec 1998) |
| Aeromonas hydrophilia lipase-acyltransferase | <enzyme> A member of the lipase family; a distinct group of lipolytic enzymes which have a novel active site structure Registry number: EC 3.1.1.- Synonym: gcat (26 Jun 1999) |
| diacylglycerol lipase | <enzyme> An enzyme of the hydrolase class that catalyses the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinaemia type I. Chemical name: Triacylglycero-protein acylhydrolase Registry number: EC 3.1.1.34 (12 Dec 1998) |
| diglyceride lipase | <enzyme> An enzyme of the hydrolase class that catalyses the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinaemia type I. Chemical name: Triacylglycero-protein acylhydrolase Registry number: EC 3.1.1.34 (12 Dec 1998) |
| lipase | <enzyme> An enzyme that catalyses the hydrolysis of fats (monoglycerides, diglycerides and triglycerides) to glycerol and fatty acids. Calcium ions are usually required. (13 Nov 1997) |
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