Lecithin Acyltransferase Deficiency
Hypolipoproteinemias
Phosphatidylcholine-Sterol O-Acyltransferase
Corneal Opacity
Specific Gravity
Lipid Metabolism, Inborn Errors
Lecithins
Acyltransferases
Lipoproteins
Cholesterol
Glycerol-3-Phosphate O-Acyltransferase
Sterol O-Acyltransferase
Diacylglycerol O-Acyltransferase
1-Acylglycerophosphocholine O-Acyltransferase
Phosphatidylcholines
Apolipoprotein A-I
Possible induction of renal dysfunction in patients with lecithin:cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli. (1/82)
To clarify the causes of renal dysfunction in familial lecithin:cholesterol acyltransferase (LCAT) deficiency, kidney samples from 4 patients with LCAT deficiency (3 homozygotes and 1 heterozygote) were examined immunohistochemically. All of the patients exhibited corneal opacities, anemia, renal dysfunction, deficiencies in plasma high density lipoprotein and LCAT activity and mass, and an increase in the ratio of plasma unesterified cholesterol to esterified cholesterol. Renal lesions began with the deposition of lipidlike structures in the glomerular basement membrane, and these structures accumulated in the mesangium and capillary subendothelium. By electron microscopy, 2 types of distinctive structure were found in glomerular lesions: vacuole structures and cross-striated, membranelike structures. The plasma oxidized phosphatidylcholine (oxPC) -modified low density lipoprotein (LDL) levels in LCAT-deficient subjects were significantly (P<0.01) higher than those in controls (1.30+/-0.82 versus 0.42+/-0.32 ng/5 microg LDL, respectively), and a significant (P<0.01) difference was observed even after adjustment for confounding factors by an analysis of covariance. The patient with the highest plasma oxPC-modified LDL had the most membranelike structures in the glomeruli and showed the greatest renal deterioration from a young age. In glomerular lesions, although there was an abundance of apoB and apoE, oil red O-positive lipids, macrophages, apoA1, and malondialdehyde were scarce. OxPC was found extracellularly in glomerular lesions, and although its distribution differed from that of apolipoproteins, it was quite similar to that of phospholipids. In conclusion, these results indicate that oxPC in plasma and glomeruli is distinctive for patients with LCAT deficiency. Therefore, oxPC may be a factor in the deterioration of kidneys in patients with familial LCAT deficiency. (+info)Metabolism of oxidized phosphatidylcholines formed in oxidized low density lipoprotein by lecithin-cholesterol acyltransferase. (2/82)
The possible involvement of lecithin-cholesterol acyltransferase (LCAT) in the metabolism of oxidized phosphatidylcholine (PC) in plasma was investigated. A variety of oxidized products are formed from PC following oxidation of low density lipoproteins (LDL). A significant increase in LDL oxidation levels in patients with familial LCAT deficiency (FLD) has been previously demonstrated by a sensitive sandwich ELISA for oxidized LDL using the monoclonal antibody DLH3 which recognizes oxidized products of PC. In the present study, we found that LCAT produces various metabolites from oxidized PC and that oxidized PC molecules in LDL particles serve as substrates. When the neutral lipid fraction was separated by TLC after the incubation of oxidized 1-palmitoyl-2-[1-14C]linoleoyl PC with human plasma, a number of radioactive bands were formed in addition to cholesteryl ester. These products were not formed from native 1-palmitoyl-2-[1-14C]linoleoyl PC. Plasma from FLD patients also failed to form the additional products from oxidized PC. The addition of dithio-bis(nitrobenzoate) (DTNB), an LCAT inhibitor, or the inactivation of LCAT activity by treating the plasma at 56 degrees C for 30 min abolished the generation of these products from oxidized PC. The activity was recovered in the high density lipoprotein (HDL) fraction but not in the LDL fraction separated from normal plasma. When 1-palmitoyl-2-[1-14C](9-oxononanoyl) PC and 1-stearoyl-2-[1-14C](5-oxovaleroyl)PC, PC oxidation products that contain short chain aldehydes, were incubated with human plasma, radioactive products in the neutral lipid fraction were observed on TLC. LDL containing oxidized PC was measured by sandwich ELISA using an anti-apolipoprotein B antibody and DLH3. The reconstituted oxidized PC-LDL particles were found to have lost their ability to bind DLH3 upon incubation with HDL, while the reactivity of the reconstituted oxidized PC-LDL remained unchanged in the presence of DTNB. These results suggest that LCAT is capable of metabolizing a variety of oxidized products of PC and preventing the accumulation of oxidized PC in circulating LDL particles. (+info)A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression. (3/82)
Fish-eye disease is a familial syndrome with corneal opacification, major high density lipoprotein (HDL) deficiency in plasma, significant cholesterol esterification in plasma on non-HDL lipoproteins, generally without premature coronary disease. This first British male case from unrelated British parents had infarcts when aged 49 and 73 years but was asymptomatic at age 81 years, with plasma cholesterol 4.3-7.1 mmol/litre, triglycerides 1.8-2.2 mmol/litre, HDL cholesterol < 0.1 mmol/litre, apolipoprotein A-I < 0.16 g/litre, lipoprotein(a) 0.61 g/litre. Cholesterol esterification was impaired using HDL-3 and A-I proteoliposomes but not using VLDL/IDL/LDL. The findings are those of LCAT deficiency with the classic fish-eye disease defect. Most of the 22 reported cases were homozygous or heterozygous for a Thr-Ile mutation at codon 123 of the lecithin:cholesterol acyltransferase (LCAT) gene. This patient was a double heterozygote for this mutation and a second new incompletely defined mutation affecting LCAT expression as defined by reduced mass and activity in plasma. (+info)Effect of probucol in lecithin-cholesterol acyltransferase-deficient mice: inhibition of 2 independent cellular cholesterol-releasing pathways in vivo. (4/82)
Cellular cholesterol release takes place by at least 2 distinct mechanisms: the lecithin-cholesterol acyltransferase (LCAT)-driven net efflux by cholesterol diffusion and the generation of high density lipoprotein (HDL) with cellular cholesterol and phospholipid on the cell-apolipoprotein interaction. Therefore, LCAT deficiency impairs the former pathway, and the latter can be inhibited by probucol, which interferes with the apolipoprotein-cell interaction. Hence, probucol was given to the LCAT-deficient mice in the attempt to suppress both of these pathways. The mice were fed low (0.2%) and high (1.2%) cholesterol diets containing 0.5% probucol for 2 weeks. LCAT deficiency and probucol markedly decreased plasma HDL, and the effects were synergistic. Tissue cholesterol content was lower in the adrenal glands and ovaries in the LCAT-deficient mice and in the probucol-treated mice, suggesting that HDL is a main cholesterol provider for these organs. It was also moderately decreased in the spleen of the low cholesterol-fed female mice and in the thyroid gland of the low cholesterol-fed male mice. On the other hand, the esterified cholesterol content in the liver was substantially increased by the probucol treatment with a high cholesterol diet in the LCAT-deficient mice but not in the wild-type mice. Among the groups, there was no significant difference in the tissue cholesterol levels in other organs, such as the liver, spleen, thymus, brain, erythrocytes, thyroid gland, testis, and aorta, resulting from either LCAT deficiency or probucol. Thus, the apolipoprotein-mediated mechanism plays a significant role in the export of cellular cholesterol in the liver, indicating that the liver is a major site of the HDL assembly. Otherwise, tissue cholesterol homeostasis can largely be maintained in mice even when the assembly of new HDL is inhibited by probucol in the absence of LCAT. Nonspecific diffusion of cholesterol perhaps adequately maintains the homeostasis in the experimental condition. (+info)Lipoprotein-X stimulates monocyte chemoattractant protein-1 expression in mesangial cells via nuclear factor-kappa B. (5/82)
BACKGROUND: Lipoprotein-X (Lp-X) is an abnormal lipoprotein found in the plasma of patients with familial lecithin:cholesterol acyltransferase (LCAT) deficiency. The majority of patients with this disorder develop progressive glomerulosclerosis. One key event in the pathogenesis of glomerulosclerosis is the infiltration of monocytes into affected glomeruli. Mesangial cells can synthesize and secrete monocyte chemoattractant protein-1 (MCP-1), an important chemoattractant for monocytes. The objective of the present study was to examine the effect of Lp-X on MCP-1 expression in mesangial cells leading to an enhanced monocyte chemotaxis and to elucidate the mechanisms involved in this process. METHODS: Lp-X was isolated from the plasma of a patient with familial LCAT deficiency. After rat mesangial cells were incubated with Lp-X for four or six hours, the expression of MCP-1 mRNA was determined by nuclease protection assay, and MCP-1 protein was measured by Western immunoblotting analysis. Monocyte chemotaxis was determined by using a Micro Chemotaxis Chamber. RESULTS: Lp-X (50 to 100 nmol/mL) stimulated mesangial cell MCP-1 mRNA expression (137 to 220%) and MCP-1 protein levels (233 to 375%). Conditioned media collected from Lp-X-treated mesangial cells stimulated human acute monocytic leukemia (THP-1) monocyte chemotaxis (165 to 200%). The increase in MCP-1 expression in mesangial cells was associated with an elevation of intracellular diacylglycerol levels, and activation of protein kinase C (PKC) as well as nuclear factor-kappa B (NF-kappa B). CONCLUSION: These results suggest that Lp-X participates in the pathogenesis of glomerulosclerosis and subsequent renal failure in familial LCAT deficient patients by stimulating monocyte infiltration via a mechanism involving mesangial MCP-1 expression. (+info)Oxidative stress is markedly elevated in lecithin:cholesterol acyltransferase-deficient mice and is paradoxically reversed in the apolipoprotein E knockout background in association with a reduction in atherosclerosis. (6/82)
Complete lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare cause of severe hypoalphalipoproteinemia, but the affected subjects are surprisingly not particularly prone to premature coronary heart disease. We studied oxidative stress in lcat-/- mice and their cross-breed with apolipoprotein-E knockout mice (apoE-/-xlcat-/-) by measuring vascular ring superoxide production and plasma phospholipid (PL)-bound F2-isoprostane levels and their relationship with aortic atherosclerosis. Compared with wild type control (lcat+/+), lcat-/- and lcat+/- mice showed a 4.9- (p = 0.003) and a 2.1-fold (p = 0.04) increase in plasma PL-F2-isoprostane levels, respectively. There was also a 3.6- (p < 0.0001) and 2.9-fold (p = 0.003) increase in the area under the curve for the aortic ring superoxide excursion by lucigenin-derived chemiluminescence. A comparison of apoE-/-xlcat+/+ mice with wild type control mice showed a more modest 2.1- (p = 0.04) and 2.2-fold (p < 0.00001) increase in these respective markers. Surprisingly, the apoE-/-xlcat-/- mice showed a paradoxical normalization in both oxidation markers. Furthermore, by fast protein liquid chromatography separation, we observed an associated retention and redistribution of serum paraoxonase activities to the non-high density lipoprotein fractions in both the apoE-/-xlcat-/- and apoE-/-xlcat+/- mice. Aortic atherosclerotic lesions in male apoE-/-xlcat-/- and apoE-/-xlcat+/- mice were reduced by 52 (p = 0.02) and 24% (p = 0.46), respectively. Our data suggest that LCAT-deficient mice are associated with an increased oxidative stress that is paradoxically reversed in a hyperlipidemic background, possibly due to the redistribution of paraoxonase. This modulation of oxidative stress may in part contribute to the reduced atherosclerosis seen in the apoE-/- xlcat-/- mice. (+info)In vivo contribution of LCAT to apolipoprotein B lipoprotein cholesteryl esters in LDL receptor and apolipoprotein E knockout mice. (7/82)
Previous studies have indicated that LCAT may play a role in the generation of cholesteryl esters (CE) in plasma apolipoprotein B (apoB) lipoproteins. The purpose of the present study was to examine the quantitative importance of LCAT on apoB lipoprotein CE fatty acid (CEFA) composition. LCAT(-/-) mice were crossed into the LDL receptor (LDLr)(-/-) and apoE(-/-) background to retard the clearance and increase the concentration of apoB lipoprotein in plasma. Plasma free cholesterol was significantly elevated but total and esterified cholesterol concentrations were not significantly affected by removal of functioning LCAT in either the LDLr(-/-) or apoE(-/-) mice consuming a chow diet. However, when functional LCAT was removed from LDLr(-/-) mice, the CEFA ratio (saturated + monounsaturated/polyunsaturated) of plasma LDL increased 7-fold because of a 2-fold increase in saturated and monounsaturated CE, a 40% reduction in cholesteryl linoleate, and a complete absence of long chain (>18 carbon) polyunsaturated CE (20:4, 20:5n-3, and 22:6n-3), from 29.3% to 0%. Removal of functional LCAT from apoE(-/-) mice resulted in only a 1.6-fold increase in the CEFA ratio, due primarily to a complete elimination of long chain CE (7.7% to 0%). Our results demonstrate that LCAT contributes significantly to the CEFA pool of apoB lipoprotein and is the only source of plasma long chain polyunsaturated CE in these mice. (+info)Hypertriglyceridemia in lecithin-cholesterol acyltransferase-deficient mice is associated with hepatic overproduction of triglycerides, increased lipogenesis, and improved glucose tolerance. (8/82)
Lecithin-cholesterol acyltransferase deficiency is frequently associated with hypertriglyceridemia (HTG) in animal models and humans. We investigated the mechanism of HTG in the ldlr-/- x lcat-/- (double knockout (dko)) mice using the ldlr-/- x lcat+/+ (knock-out (ko)) littermates as control. Mean fasting triglyceride (TG) levels in the dko mice were elevated 1.75-fold compared with their controls (p < 0.002). Both the very low density lipoprotein and the low density lipoprotein/intermediate density lipoprotein fractions separated by fast protein liquid chromatography were TG-enriched in the dko mice. In vitro lipolysis assay revealed that the dko mouse very low density lipoprotein (d < 1.019 g/ml) fraction separated by ultracentrifugation was a more efficient substrate for lipolysis by exogenous bovine lipoprotein lipase. Post-heparin lipoprotein lipase activity was reduced by 61% in the dko mice. Hepatic TG production rate, determined after intravenous Triton WR1339 injection, was increased 8-fold in the dko mice. Hepatic mRNA levels of sterol regulatory element binding protein-1 (srebp-1) and its target genes acetyl-CoA carboxylase-1 (acc-1), fatty acid synthase (fas), and stearoyl-CoA desaturase-1 (scd-1) were significantly elevated in the dko mice compared with the ko control. The hepatic mRNA levels of LXRalpha (lxralpha) and its target genes including angiopoietin-like protein 3 (angptl-3) in the dko mice were unchanged. Fasting glucose and insulin levels were reduced by 31 and 42%, respectively in the dko mice, in conjunction with a 49% reduction in hepatic pepck-1 mRNA (p = 0.014). Both the HTG and the improved fasting glucose phenotype seen in the dko mice are at least in part attributable to an up-regulation of the hepatic srebp-1c gene. (+info)Lecithin:cholesterol acyltransferase (LCAT) deficiency is a genetic disorder that affects the metabolism of cholesterol in the body. LCAT is an enzyme that helps to convert cholesterol into a form that can be easily transported in the bloodstream.
In LCAT deficiency, the activity of this enzyme is reduced or absent, leading to an accumulation of cholesterol in various tissues and organs of the body. This can result in a range of symptoms, including corneal opacities (clouding of the clear outer layer of the eye), hemolytic anemia (destruction of red blood cells), proteinuria (excess protein in the urine), and kidney failure.
There are two main types of LCAT deficiency: a complete form, known as fish-eye disease, which is characterized by corneal opacities but few other symptoms; and an incomplete form, known as LCAT deficiency with systemic involvement, which can affect multiple organs and systems of the body.
LCAT deficiency is caused by mutations in the LCAT gene, which provides instructions for making the LCAT enzyme. Inheritance is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
Hypolipoproteinemias are a group of genetic disorders characterized by low levels of lipoproteins in the blood. Lipoproteins are complex particles composed of proteins and lipids that play a crucial role in the transport and metabolism of fat molecules, such as cholesterol and triglycerides, in the body.
There are several types of hypolipoproteinemias, each associated with deficiencies in specific lipoproteins:
1. Hypobetalipoproteinemia: This disorder is characterized by low levels of beta-lipoproteins, also known as low-density lipoproteins (LDL), or "bad" cholesterol. It can lead to decreased absorption of fat-soluble vitamins and an increased risk of fatty liver disease.
2. Abetalipoproteinemia: This is a rare autosomal recessive disorder characterized by the absence of beta-lipoproteins and apolipoprotein B, which results in very low levels of LDL cholesterol and high-density lipoproteins (HDL), or "good" cholesterol. It can lead to fat malabsorption, neurological symptoms, and retinal degeneration.
3. Tangier disease: This disorder is caused by a deficiency in apolipoprotein A-I and results in low levels of HDL cholesterol. It can cause enlarged orange-colored tonsils, neuropathy, and an increased risk of coronary artery disease.
4. Familial hypoalphalipoproteinemia: This disorder is characterized by low levels of HDL cholesterol due to a deficiency in apolipoprotein A-I or A-II. It can increase the risk of premature coronary artery disease.
It's important to note that while some hypolipoproteinemias are associated with an increased risk of cardiovascular disease, others may actually protect against it due to reduced levels of atherogenic lipoproteins. Treatment for these disorders typically involves dietary modifications and supplementation of fat-soluble vitamins and essential fatty acids. In some cases, medication may be necessary to manage symptoms or prevent complications.
Phosphatidylcholine-Sterol O-Acyltransferase (PCOAT, also known as Sterol O-Acyltransferase 1 or SOAT1) is an enzyme that plays a crucial role in the regulation of cholesterol metabolism. It is located in the endoplasmic reticulum and is responsible for the transfer of acyl groups from phosphatidylcholine to cholesterol, forming cholesteryl esters. This enzymatic reaction results in the storage of excess cholesterol in lipid droplets, preventing its accumulation in the cell membrane and potentially contributing to the development of atherosclerosis if not properly regulated.
Defects or mutations in PCOAT can lead to disruptions in cholesterol homeostasis, which may contribute to various diseases such as cardiovascular disorders, metabolic syndrome, and neurodegenerative conditions. Therefore, understanding the function and regulation of this enzyme is essential for developing therapeutic strategies aimed at managing cholesterol-related disorders.
Corneal opacity refers to a condition in which the cornea, the clear front part of the eye, becomes cloudy or opaque. This can occur due to various reasons such as injury, infection, degenerative changes, or inherited disorders. As a result, light is not properly refracted and vision becomes blurred or distorted. In some cases, corneal opacity can lead to complete loss of vision in the affected eye. Treatment options depend on the underlying cause and may include medication, corneal transplantation, or other surgical procedures.
Specific gravity is a term used in medicine, particularly in the context of urinalysis and other bodily fluid analysis. It refers to the ratio of the density (mass of a substance per unit volume) of a sample to the density of a reference substance, usually water. At body temperature, this is expressed as:
Specific gravity = Density of sample / Density of water at 37 degrees Celsius
In urinalysis, specific gravity is used to help evaluate renal function and hydration status. It can indicate whether the kidneys are adequately concentrating or diluting the urine. A lower specific gravity (closer to 1) may suggest overhydration or dilute urine, while a higher specific gravity (greater than 1) could indicate dehydration or concentrated urine. However, specific gravity should be interpreted in conjunction with other urinalysis findings and clinical context for accurate assessment.
Inborn errors of lipid metabolism refer to genetic disorders that affect the body's ability to break down and process lipids (fats) properly. These disorders are caused by defects in genes that code for enzymes or proteins involved in lipid metabolism. As a result, toxic levels of lipids or their intermediates may accumulate in the body, leading to various health issues, which can include neurological problems, liver dysfunction, muscle weakness, and cardiovascular disease.
There are several types of inborn errors of lipid metabolism, including:
1. Disorders of fatty acid oxidation: These disorders affect the body's ability to convert long-chain fatty acids into energy, leading to muscle weakness, hypoglycemia, and cardiomyopathy. Examples include medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
2. Disorders of cholesterol metabolism: These disorders affect the body's ability to process cholesterol, leading to an accumulation of cholesterol or its intermediates in various tissues. Examples include Smith-Lemli-Opitz syndrome and lathosterolosis.
3. Disorders of sphingolipid metabolism: These disorders affect the body's ability to break down sphingolipids, leading to an accumulation of these lipids in various tissues. Examples include Gaucher disease, Niemann-Pick disease, and Fabry disease.
4. Disorders of glycerophospholipid metabolism: These disorders affect the body's ability to break down glycerophospholipids, leading to an accumulation of these lipids in various tissues. Examples include rhizomelic chondrodysplasia punctata and abetalipoproteinemia.
Inborn errors of lipid metabolism are typically diagnosed through genetic testing and biochemical tests that measure the activity of specific enzymes or the levels of specific lipids in the body. Treatment may include dietary modifications, supplements, enzyme replacement therapy, or gene therapy, depending on the specific disorder and its severity.
Lecithins are a group of naturally occurring compounds called phospholipids, which are essential components of biological membranes. They are composed of a molecule that contains a hydrophilic (water-attracting) head and two hydrophobic (water-repelling) tails. This unique structure allows lecithins to act as emulsifiers, helping to mix oil-based and water-based substances together.
Lecithins are found in various foods such as egg yolks, soybeans, sunflower seeds, and some other plants. In the medical field, lecithins may be used in dietary supplements or as a component of nutritional support for patients with certain conditions. They have been studied for their potential benefits in improving liver function, supporting brain health, and reducing cholesterol levels; however, more research is needed to confirm these effects and establish recommended dosages.
Acyltransferases are a group of enzymes that catalyze the transfer of an acyl group (a functional group consisting of a carbon atom double-bonded to an oxygen atom and single-bonded to a hydrogen atom) from one molecule to another. This transfer involves the formation of an ester bond between the acyl group donor and the acyl group acceptor.
Acyltransferases play important roles in various biological processes, including the biosynthesis of lipids, fatty acids, and other metabolites. They are also involved in the detoxification of xenobiotics (foreign substances) by catalyzing the addition of an acyl group to these compounds, making them more water-soluble and easier to excrete from the body.
Examples of acyltransferases include serine palmitoyltransferase, which is involved in the biosynthesis of sphingolipids, and cholesteryl ester transfer protein (CETP), which facilitates the transfer of cholesteryl esters between lipoproteins.
Acyltransferases are classified based on the type of acyl group they transfer and the nature of the acyl group donor and acceptor molecules. They can be further categorized into subclasses based on their sequence similarities, three-dimensional structures, and evolutionary relationships.
Lipoproteins are complex particles composed of multiple proteins and lipids (fats) that play a crucial role in the transport and metabolism of fat molecules in the body. They consist of an outer shell of phospholipids, free cholesterols, and apolipoproteins, enclosing a core of triglycerides and cholesteryl esters.
There are several types of lipoproteins, including:
1. Chylomicrons: These are the largest lipoproteins and are responsible for transporting dietary lipids from the intestines to other parts of the body.
2. Very-low-density lipoproteins (VLDL): Produced by the liver, VLDL particles carry triglycerides to peripheral tissues for energy storage or use.
3. Low-density lipoproteins (LDL): Often referred to as "bad cholesterol," LDL particles transport cholesterol from the liver to cells throughout the body. High levels of LDL in the blood can lead to plaque buildup in artery walls and increase the risk of heart disease.
4. High-density lipoproteins (HDL): Known as "good cholesterol," HDL particles help remove excess cholesterol from cells and transport it back to the liver for excretion or recycling. Higher levels of HDL are associated with a lower risk of heart disease.
Understanding lipoproteins and their roles in the body is essential for assessing cardiovascular health and managing risks related to heart disease and stroke.
Cholesterol is a type of lipid (fat) molecule that is an essential component of cell membranes and is also used to make certain hormones and vitamins in the body. It is produced by the liver and is also obtained from animal-derived foods such as meat, dairy products, and eggs.
Cholesterol does not mix with blood, so it is transported through the bloodstream by lipoproteins, which are particles made up of both lipids and proteins. There are two main types of lipoproteins that carry cholesterol: low-density lipoproteins (LDL), also known as "bad" cholesterol, and high-density lipoproteins (HDL), also known as "good" cholesterol.
High levels of LDL cholesterol in the blood can lead to a buildup of cholesterol in the walls of the arteries, increasing the risk of heart disease and stroke. On the other hand, high levels of HDL cholesterol are associated with a lower risk of these conditions because HDL helps remove LDL cholesterol from the bloodstream and transport it back to the liver for disposal.
It is important to maintain healthy levels of cholesterol through a balanced diet, regular exercise, and sometimes medication if necessary. Regular screening is also recommended to monitor cholesterol levels and prevent health complications.
Glycerol-3-Phosphate O-Acyltransferase (GPAT) is an enzyme that plays a crucial role in the biosynthesis of triacylglycerols and phospholipids, which are major components of cellular membranes and energy storage molecules. The GPAT enzyme catalyzes the initial and rate-limiting step in the glycerolipid synthesis pathway, specifically the transfer of an acyl group from an acyl-CoA donor to the sn-1 position of glycerol-3-phosphate, forming lysophosphatidic acid (LPA). This reaction is essential for the production of various glycerolipids, including phosphatidic acid, diacylglycerol, and triacylglycerol. There are four isoforms of GPAT (GPAT1-4) in humans, each with distinct subcellular localizations and functions. Dysregulation of GPAT activity has been implicated in several pathological conditions, such as metabolic disorders, cardiovascular diseases, and cancers.
Sterol O-Acyltransferase (SOAT, also known as ACAT for Acyl-CoA:cholesterol acyltransferase) is an enzyme that plays a crucial role in cholesterol homeostasis within cells. Specifically, it catalyzes the reaction of esterifying free cholesterol with fatty acyl-coenzyme A (fatty acyl-CoA) to form cholesteryl esters. This enzymatic activity allows for the intracellular storage of excess cholesterol in lipid droplets, reducing the levels of free cholesterol in the cell and thus preventing its potential toxic effects on membranes and proteins. There are two isoforms of SOAT, SOAT1 and SOAT2, which exhibit distinct subcellular localization and functions. Dysregulation of SOAT activity has been implicated in various pathological conditions, including atherosclerosis and neurodegenerative disorders.
Diacylglycerol O-Acyltransferase (DGAT) is an enzyme that catalyzes the final step in triacylglycerol synthesis, which is the formation of diacylglycerol and fatty acyl-CoA into triacylglycerol. This enzyme plays a crucial role in lipid metabolism and energy storage in cells. There are two main types of DGAT enzymes, DGAT1 and DGAT2, which share limited sequence similarity but have similar functions. Inhibition of DGAT has been explored as a potential therapeutic strategy for the treatment of obesity and related metabolic disorders.
1-Acylglycerophosphocholine O-Acyltransferase is an enzyme that belongs to the family of transferases, specifically those acyltransferases transferring groups other than aminoacyl groups. It is responsible for catalyzing the reaction that transfers an acyl group from an acyl-CoA to the sn-2 position of 1-acylglycerophosphocholine, resulting in the formation of phosphatidylcholine, which is a major component of biological membranes. This enzyme plays a crucial role in lipid metabolism and has been implicated in various diseases, including atherosclerosis, non-alcoholic fatty liver disease, and cancer.
Phosphatidylcholines (PtdCho) are a type of phospholipids that are essential components of cell membranes in living organisms. They are composed of a hydrophilic head group, which contains a choline moiety, and two hydrophobic fatty acid chains. Phosphatidylcholines are crucial for maintaining the structural integrity and function of cell membranes, and they also serve as important precursors for the synthesis of signaling molecules such as acetylcholine. They can be found in various tissues and biological fluids, including blood, and are abundant in foods such as soybeans, eggs, and meat. Phosphatidylcholines have been studied for their potential health benefits, including their role in maintaining healthy lipid metabolism and reducing the risk of cardiovascular disease.
Apolipoprotein A-I (ApoA-I) is a major protein component of high-density lipoproteins (HDL) in human plasma. It plays a crucial role in the metabolism and transport of lipids, particularly cholesterol, within the body. ApoA-I facilitates the formation of HDL particles, which are involved in the reverse transport of cholesterol from peripheral tissues to the liver for excretion. This process is known as reverse cholesterol transport and helps maintain appropriate cholesterol levels in the body. Low levels of ApoA-I or dysfunctional ApoA-I have been associated with an increased risk of developing cardiovascular diseases.
Cholesteryl esters are formed when cholesterol, a type of lipid (fat) that is important for the normal functioning of the body, becomes combined with fatty acids through a process called esterification. This results in a compound that is more hydrophobic (water-repelling) than cholesterol itself, which allows it to be stored more efficiently in the body.
Cholesteryl esters are found naturally in foods such as animal fats and oils, and they are also produced by the liver and other cells in the body. They play an important role in the structure and function of cell membranes, and they are also precursors to the synthesis of steroid hormones, bile acids, and vitamin D.
However, high levels of cholesteryl esters in the blood can contribute to the development of atherosclerosis, a condition characterized by the buildup of plaque in the arteries, which can increase the risk of heart disease and stroke. Cholesteryl esters are typically measured as part of a lipid profile, along with other markers such as total cholesterol, HDL cholesterol, and triglycerides.
Lecithin cholesterol acyltransferase deficiency
Lecithin-cholesterol acyltransferase
Apolipoprotein D
Corneal dystrophy
List of MeSH codes (C16)
List of diseases (L)
List of MeSH codes (C18)
Vitamin A
Apolipoprotein AI
APOA4
Codocyte
Visual cycle
Anandamide
Dipalmitoylphosphatidylcholine
High-density lipoprotein
Hypervitaminosis A
Lecithin cholesterol acyltransferase deficiency - Wikipedia
Lecithin-Cholesterol Acyltransferase Deficiency: Overview, Presentation, Differential Diagnosis
Lecithin:cholesterol acyltransferase deficiency increases atherosclerosis in the low density lipoprotein receptor and...
Study of the components of reverse cholesterol transport in lecithin: Cholesterol acyltransferase deficiency - HSC
Low HDL Cholesterol (Hypoalphalipoproteinemia): Practice Essentials, Pathophysiology, Etiology
Fish-eye disease: MedlinePlus Genetics
Corneal Opacity
Summary Report | CureHunter
Low HDL Cholesterol (Hypoalphalipoproteinemia): Background, Pathophysiology, Epidemiology
Dr. Steven Pergam, Author at Curetalks
DeCS 2017 - Changed terms
DeCS 2017 - Changed terms
DeCS 2017 - Changed terms
DeCS 2017 - Changed terms
Glomerular lipidosis as a feature of renal-limited macrophage activation syndrome in a transplanted kidney: a case report | BMC...
CIENCIASMEDICASNEWS: Complete LCAT deficiency - Genetics Home Reference
Crotamiton
Kif2c Mouse Gene Details | kinesin family member 2C | International Mouse Phenotyping Consortium
Atsuko Nakatsuka - Research output - Okayama University
NLA Posters - Montior 12 | ETT posters
論文 (-1999年) | ゲノムサイエンス&メディシン分野
Transcriptome analysis reveals the molecular mechanism of Yiqi Rougan decoction in reducing CCl4-induced liver fibrosis in rats...
Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic...
Opacification of the corneal stroma (Concept Id: C0423250)
- MedGen - NCBI
Unsere Publikationen & Bücher
Leber Congenital Amaurosis - American Academy of Ophthalmology
Corneal dystrophy crystalline of Schnyder | Rare Diseases | RareGuru
Pesquisa | Portal Regional da BVS
Plasma and cerebrospinal fluid cholesterol esterification is hampered in Alzheimer's disease | Alzheimer's Research & Therapy |...
Author Report for: Costantin A
statistiche ricercatoreLCAT49
- The disease has two forms: Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency. (wikipedia.org)
- A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. (wikipedia.org)
- LCAT deficiency does not allow for HDL maturation resulting in its rapid catabolism of circulating apolipoprotein A1 and apolipoprotein A2. (wikipedia.org)
- Both diseases are very rare with ~70 reported cases of familial LCAT deficiency and ~30 cases of fish-eye disease. (wikipedia.org)
- Currently, there is no specific treatment to correct the LCAT deficiency so therapy is focused on symptom relief. (wikipedia.org)
- citation needed] Kidney failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause of morbidity is visual impairment due to corneal opacity. (wikipedia.org)
- Lecithin-cholesterol acyltransferase (LCAT) is a lipoprotein-associated enzyme which plays a large role in the esterification of free cholesterol, the maturation of high density-lipoprotein (HDL) particles, and the intravascular stage of reverse cholesterol transport (RCT). (medscape.com)
- The two familial forms of LCAT deficiency are termed familial LCAT deficiency (complete LCAT deficiency) and fish eye disease (partial LCAT deficiency). (medscape.com)
- Familial LCAT deficiency (FLD), first reported in 1967 in a Norwegian family, is characterized by the absence of LCAT activity towards HDL and LDL. (medscape.com)
- Familial LCAT deficiency and fish eye disease are both autosomal recessive disorders caused by mutations of the LCAT gene. (medscape.com)
- [ 1 ] Only one LCAT gene has been discovered, with certain mutations of the gene resulting in familial LCAT deficiency and other mutations of the gene causing fish eye disease. (medscape.com)
- [ 2 , 3 ] The exact location of the mutations of the LCAT gene cannot yet be used to predict the clinical or biochemical manifestations of either familial LCAT deficiency or fish eye disease. (medscape.com)
- The clinical manifestations of LCAT deficiency are likely due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified (free) cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes. (medscape.com)
- Familial LCAT deficiency and fish eye disease are rare. (medscape.com)
- Out of 70 families screened worldwide, at least 60 patients with either familial LCAT deficiency or fish eye disease have been reported. (medscape.com)
- A detailed analysis of ethnicity in familial LCAT deficiency and fish eye disease is difficult because of the rarity of these conditions. (medscape.com)
- The clinical and biochemical features of familial LCAT deficiency and fish eye disease are highly variable. (medscape.com)
- In patients with familial LCAT deficiency, symptoms are related to anemia, corneal opacities, renal insufficiency, and atherosclerosis (rarely). (medscape.com)
- The purpose of the present study was to test the hypothesis that lecithin:cholesterol acyltransferase (LCAT) deficiency would accelerate atherosclerosis development in low density lipoprotein (LDL) receptor (LDLr-/-) and apoE (apoE-/-) knockout mice. (eurekamag.com)
- LCAT deficiency resulted in a 12-fold increase in the ratio of saturated + monounsaturated to polyunsaturated cholesteryl esters in apoB lipoproteins in LDLr-/- mice and a 3-fold increase in the apoE-/- mice compared with their counterparts with active LCAT. (eurekamag.com)
- We conclude that LCAT deficiency in LDLr-/- and apoE-/- mice fed an atherogenic diet resulted in increased aortic cholesterol deposition, likely due to a reduction in plasma HDL, an increased saturation of cholesteryl esters in apoB lipoproteins and, in the apoE-/- background, an increased plasma concentration of apoB lipoproteins. (eurekamag.com)
- Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. (medlineplus.gov)
- This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). (medlineplus.gov)
- Mutations that affect both alpha-LCAT activity and beta-LCAT activity lead to a related disorder called complete LCAT deficiency , which involves corneal opacities in combination with features affecting other parts of the body. (medlineplus.gov)
- Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G. A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. (medlineplus.gov)
- Savel J, Lafitte M, Pucheu Y, Pradeau V, Tabarin A, Couffinhal T. Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency. (medlineplus.gov)
- However, extreme HDL deficiencies caused by rare autosomal recessive disorders, including familial hypoalphalipoproteinemia (HA), familial lecithin-cholesterol acetyltransferase (LCAT) deficiency, and Tangier disease, do not always correlate with more frequent CHD. (medscape.com)
- Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. (blogspot.com)
- In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. (blogspot.com)
- As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision. (blogspot.com)
- People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. (blogspot.com)
- Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis). (blogspot.com)
- How common is complete LCAT deficiency? (blogspot.com)
- Complete LCAT deficiency is a rare disorder. (blogspot.com)
- What genes are related to complete LCAT deficiency? (blogspot.com)
- Complete LCAT deficiency is caused by mutations in the LCAT gene. (blogspot.com)
- LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. (blogspot.com)
- How do people inherit complete LCAT deficiency? (blogspot.com)
- Where can I find information about diagnosis or management of complete LCAT deficiency? (blogspot.com)
- You might also find information on the diagnosis or management of complete LCAT deficiency in Educational resources and Patient support . (blogspot.com)
- You may find the following resources about complete LCAT deficiency helpful. (blogspot.com)
- SCD should be differentiated from other lipid keratopathies and particular from lecithin cholesterol acyltransferase disease (LCAT deficiency, see this term). (rareguru.com)
- Lecithin:cholesterol acyltransferase (LCAT) activity and cholesterol esterification rate (CER), two measures of the efficiency of the esterification process, were reduced by 29% and 16%, respectively, in the plasma of AD patients. (biomedcentral.com)
- Among these factors, lecithin:cholesterol acyltransferase (LCAT), the enzyme responsible of cholesterol esterification in plasma, plays a major role in HDL maturation [ 3 ]. (biomedcentral.com)
- OBJECTIVE: To better understand the role of lecithin:cholesterol acyltransferase (LCAT) in lipoprotein metabolism through the genetic and biochemical characterization of families carrying mutations in the LCAT gene. (inra.fr)
- DNA analysis of 82 family members identified 15 carriers of 2 mutant LCAT alleles, 11 with familial LCAT deficiency (FLD) and 4 with fish-eye disease (FED). (inra.fr)
- Dr. Remaley's laboratory also investigates lecithin cholesterol acyl transferase (LCAT), a plasma enzyme that esterifies cholesterol with a fatty acid, which sequesters it on HDL and facilitates its removal from the body. (nih.gov)
- Two rare diseases-fish-eye disease (FED) and familial LCAT deficiency (FLT)-result from a lack of LCAT. (nih.gov)
- APOA1, a secreted protein belonging to the apolipoprotein A1/A4/E family, participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). (nih.gov)
Enzyme4
- However, there is only a partial deficiency because the enzyme remains active on the cholesterol particles in very low density lipoproteins (VLDL) and low density lipoproteins (LDL). (wikipedia.org)
- Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen III oxidase. (bionity.com)
- The existence of a new class of potent and selective SOAT2 inhibitors provides an opportunity for exploring if suppression of this enzyme could potentially become an adjunctive therapy for liver disease in NPC1 deficiency. (elsevierpure.com)
- When sterol O-acyltransferase 2, a cholesterol esterifying enzyme present in enterocytes and hepatocytes, is eliminated in NPC1-deficient mice, there is a reduction in their hepatomegaly, hepatic UC content, and cellular injury. (elsevierpure.com)
LRAT4
- Another genetic mutation that can cause vitamin A deficiency is the lecithin-retinol acyltransferase (LRAT) gene mutation. (biocertica.com)
- A mutation in the LRAT gene can reduce the body's ability to produce retinal, leading to a deficiency. (biocertica.com)
- Purpose: To report novel variants and characterize the phenotype associated with the autosomal recessive retinal dystrophy caused by mutations in the lecithin retinol acyltransferase ( LRAT ) gene. (rphope.org)
- Phenotypic similarities to the retinal dysfunction associated with RPE-specific protein 65 kDa mutations, another visual cycle gene, suggest that LRAT deficiency may show a good response to novel therapies. (rphope.org)
Mutations5
- The etiology of HDL deficiencies ranges from secondary causes, such as smoking, to specific genetic mutations, such as Tangier disease and fish-eye disease. (medscape.com)
- DNA testing can help diagnose vitamin A deficiency by looking for genetic mutations associated with the condition. (biocertica.com)
- These mutations can affect the body's ability to absorb and use vitamin A properly, leading to a deficiency. (biocertica.com)
- By identifying these mutations, doctors can determine if a person is at risk for vitamin A deficiency and recommend the appropriate treatment. (biocertica.com)
- This is especially important for individuals who have a family history of vitamin A deficiency, as they may be more likely to inherit the genetic mutations that can cause the condition. (biocertica.com)
Lipoprotein metabolism1
- Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. (wikipedia.org)
Lipoproteins2
- Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins. (wikipedia.org)
- Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin:cholesterol acyltransferase deficiency and fish-eye disease. (arizona.edu)
Gene1
- A mutation in this gene can reduce the amount of vitamin A carried in the blood, leading to a deficiency. (biocertica.com)
Atherosclerosis1
- Partial Lysosomal Acid Lipase Deficiency (LAL-D) in Fatty Liver Disease: A Future Role in Preventing Atherosclerosis? (ettposters.com)
Liver1
- Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase . (chemeurope.com)
Diseases1
- Neonates of mothers with PE have a high risk of cardiovascular diseases, stroke, mental retardation, sensory deficiencies and an increased risk of developing metabolic diseases. (biomedcentral.com)
Symptoms1
- Symptoms of vitamin A deficiency can vary depending on the severity of the deficiency and the length of time it has been present. (biocertica.com)
Serious complications1
- In severe cases, vitamin A deficiency can lead to more serious complications, including blindness and death. (biocertica.com)
Disease3
- Structural differences between wild-type and fish eye disease mutant of lecithin:cholesterol acyltransferase. (medlineplus.gov)
- Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. (nih.gov)
- Some medical conditions, such as celiac disease and inflammatory bowel disease, can also lead to vitamin A deficiency. (biocertica.com)
Occurs1
- Night blindness is the most common symptom of vitamin A deficiency and occurs when the eyes cannot adjust to low light levels. (biocertica.com)
Syndrome1
- 1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)
Patients1
- Patients with a deficiency of LPL or apo C-II show a dramatic accumulation of chylomicrons in the plasma (type I hyperlipoproteinemia, or familial LPL deficiency) even if fasted. (pharmacy180.com)
Involves1
- Once a diagnosis of vitamin A deficiency has been made, treatment typically involves increasing the amount of vitamin A in the diet. (biocertica.com)
Plasma2
- Lipoprotein X is a lipoprotein that is found only in the plasma of subjects with cholestasis or who have familial lecithin cholesterol acyltransferase deficiency. (nihatodabasi.com)
- Cholesteryl esters are generated at multiple sites in the body by sterol O-acyltransferase (SOAT) 1 or SOAT2 in various cell types and lecithin cholesterol acyltransferase in plasma. (elsevierpure.com)
Infections1
- Vitamin A deficiencies are also associated with increased risk of parasitic infections. (interactionsguide.com)
Condition2
- Vitamin A deficiency is a condition in which a person does not have enough vitamin A in their body. (biocertica.com)
- In conclusion, vitamin A deficiency is a condition that can have serious consequences if left untreated. (biocertica.com)
Risk1
- DNA testing can also help identify people who are at risk for developing vitamin A deficiency in the future. (biocertica.com)
Forms1
- Read through all forms carefully, and pencil in a sequence of courses to discuss with the program advisor, Dr. La provincia de Zamboanga se encuentra en la parte occidental de la isla de Mindanao, e incluye todo el territorio al oeste de la frontera entre Lanao y Zamboanga, con las islas adyacentes no incluidos unknowncheats de la provincia de Sulu. (salonmarocainnantes.fr)
Cases1
- In some cases, vitamin A supplements may also be necessary to correct the deficiency. (biocertica.com)
Development1
- By identifying these individuals and providing appropriate treatment, doctors can help prevent the development of vitamin A deficiency and its associated complications. (biocertica.com)
High-density lip2
- This is the first report of lecithin-cholesterol acyltransferase deficiency in Iran.The diagnosis was confirmed by a low high-density lipoprotein cholesterol concentration, decreased activity of lecithin-cholesterol acyltransferase in plasma, and positive familial history of the disease. (nih.gov)
- Lecithin-cholesterol acyltransferase deficiency syndrome is a rare disorder that causes a drastic reduction of high-density lipoprotein (HDL) cholesterol levels in patients. (nih.gov)
Acyl transferase1
- In obstructive jaundice and hepatitis with biliary obstruction, there is a rise in free cholesterol and lecithin within the plasma due to the bile salts that inhibit the activity of the enzyme lecithin-ldl cholesterol acyl transferase, which normally esterifies ldl cholesterol. (ehd.org)
Coronary Artery1
- Some of the diseases the laboratory investigates include Degos disease, premature coronary artery disease, Hyper IgE Syndrome, deficiency of adenosine deaminase 2 (DADA2), STING-associated vasculopathy with onset in infancy (SAVI), arterial calcification due to deficiency of CD73 (ACDC), and cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy (CADASIL). (nih.gov)
Disorder4
- Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. (wikipedia.org)
- Familial lecithin-cholesterol acyltransferase deficiency is an uncommon autosomal recessive disorder from a heritable defect in esterification of plasma cholesterol. (nih.gov)
- An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. (nih.gov)
- Glycogen storage disease type V is a metabolic disorder , more specifically a glycogen storage disease , caused by a deficiency of myophosphorylase. (chemeurope.com)
Vitamin deficiencies2
- Correction of vitamin deficiencies is important for optimal growth and development. (medscape.com)
- Fat-soluble vitamin deficiencies are frequently observed in Alagille syndrome. (medscape.com)
Congenital1
- Congenital lecithin-cholesterol acyltransferase deficiency. (nih.gov)
Hemolytic anemia1
- Suspect vitamin E deficiency in the presence of mild hemolytic anemia and diminished deep tendon reflexes or ataxia. (medscape.com)
Hepatic4
- 4. Lecithin:cholesterol acyltransferase deficiency protects against cholesterol-induced hepatic endoplasmic reticulum stress in mice. (nih.gov)
- 120 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia, sitosterolemia, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and dysbetalipoproteinemia. (nih.gov)
- 25 mg/dl includes patients with deficiency of cholesteryl ester transfer protein, lecithin cholesterol acyltransferase, phospholipid transfer protein, lipoprotein lipase, hepatic lipase, or apo-CII, ANGPTL3, and Tangier disease. (nih.gov)
- 150 mg/dl includes patients with deficiency of lipoprotein lipase, hepatic lipase or apoC-II, GPIHBP1, LMF1, dysbetalipoproteinemia, Type I, Type IV and Type V hyperlipidemia. (nih.gov)
Liver1
- In infants with cholestatic liver disease, exclude other diagnoses including cystic fibrosis (sweat chlorine or cystic fibrosis DNA testing), hypothyroidism (thyroid functions), galactosemia (urine-reducing substance), sepsis or infection ( urinary tract infection or cytomegalovirus ), and alpha-1 antitrypsin deficiency (serum alpha-1 antitrypsin level with PI typing). (medscape.com)
Syndrome1
- 1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)
Iron1
- The RDW is a quantitative index of variability in RBC size, and is increased in regenerative anemia and iron deficiency anemia. (vin.com)
Levels1
- If significant discrepancies are observed between the degree of elevation of GGT and alkaline phosphatase levels, consider the possibility of occult zinc deficiency or vitamin D deficiency. (medscape.com)