Abetalipoproteinemia: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.Acanthocytes: Erythrocytes with protoplasmic projections giving the cell a thorny appearance.Apolipoproteins B: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA.Hypobetalipoproteinemias: Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.Hypolipoproteinemias: Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).Apolipoproteins: Protein components on the surface of LIPOPROTEINS. They form a layer surrounding the hydrophobic lipid core. There are several classes of apolipoproteins with each playing a different role in lipid transport and LIPID METABOLISM. These proteins are synthesized mainly in the LIVER and the INTESTINES.Lipoproteins, HDL: A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases.Lipoproteins: Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.Lipoproteins, LDL: A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL function is to transport cholesterol and cholesterol esters to extrahepatic tissues.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Lipoproteins, VLDL: A class of lipoproteins of very light (0.93-1.006 g/ml) large size (30-80 nm) particles with a core composed mainly of TRIGLYCERIDES and a surface monolayer of PHOSPHOLIPIDS and CHOLESTEROL into which are imbedded the apolipoproteins B, E, and C. VLDL facilitates the transport of endogenously made triglycerides to extrahepatic tissues. As triglycerides and Apo C are removed, VLDL is converted to INTERMEDIATE-DENSITY LIPOPROTEINS, then to LOW-DENSITY LIPOPROTEINS from which cholesterol is delivered to the extrahepatic tissues.

Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse. (1/80)

Conventional knockout of the microsomal triglyceride transfer protein large subunit (lMTP) gene is embryonic lethal in the homozygous state in mice. We have produced a conditional lMTP knockout mouse by inserting loxP sequences flanking exons 5 and 6 by gene targeting. Homozygous floxed mice were born live with normal plasma lipids. Intravenous injection of an adenovirus harboring Cre recombinase (AdCre1) produced deletion of exons 5 and 6 and disappearance of lMTP mRNA and immunoreactive protein in a liver-specific manner. There was also disappearance of plasma apolipoprotein (apo) B-100 and marked reduction in apoB-48 levels. Wild-type mice showed no response, and heterozygous mice, an intermediate response, to AdCre1. Wild-type mice doubled their plasma cholesterol level following a high cholesterol diet. This hypercholesterolemia was abolished in AdCre1-treated lMTP-/- mice, the result of a complete absence of very low/intermediate/low density lipoproteins and a slight reduction in high density lipoprotein. Heterozygous mice showed an intermediate lipoprotein phenotype. The rate of accumulation of plasma triglyceride following Triton WR1339 treatment in lMTP-/- mice was <10% that in wild-type animals, indicating a failure of triglyceride-rich lipoprotein production. Pulse-chase experiments using hepatocytes isolated from wild-type and lMTP-/- mice revealed a failure of apoB secretion in lMTP-/- animals. Therefore, the liver-specific inactivation of the lMTP gene completely abrogates apoB-100 and very low/intermediate/low density lipoprotein production. These conditional knockout mice are a useful in vivo model for studying the role of MTP in apoB biosynthesis and the biogenesis of apoB-containing lipoproteins.  (+info)

Abetalipoproteinaemia. A case report with pathological studies. (2/80)

The clinical and pathological features of a case of abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked reduction in the velocity of ocular horizontal saccadic movements. Pathological studies revealed an active chronic demyelinating process. The patient showed no response to large doses of vitamin E. The rationale for this therapy, and the possible reasons for its failure are discussed.  (+info)

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (3/80)

Uniparental disomy (UPD), a rare inheritance of 2 copies of a single chromosome homolog or a region of a chromosome from one parent, can result in various autosomal recessive diseases. Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency. In this study, we describe a patient with ABL inherited as a homozygous intron 9 splice acceptor G(-1)-to-A mutation of the transfer protein gene. This mutation alters the splicing of the mRNA, resulting in a 36 amino acids, in-frame deletion of sequence encoded by exon 10. We analyzed chromosome 4, including MTP gene (4q22-24), using short tandem repeat markers. The proband has only his mother's genes in chromosome 4q spanning a 150-centimorgan region; ie, segmental maternal isodisomy 4q21-35, probably due to mitotic recombination. Nonpaternity between the proband and his father was excluded using 6 polymorphic markers from different chromosomes (paternity probability, 0.999). Maternal isodisomy (maternal UPD 4q) was the basis for homozygosity of the MTP gene mutation in this patient.  (+info)

Progress towards understanding the role of microsomal triglyceride transfer protein in apolipoprotein-B lipoprotein assembly. (4/80)

The microsomal triglyceride transfer protein (MTP) is necessary for the proper assembly of the apolipoprotein B containing lipoproteins, very low density lipoprotein and chylomicrons. Recent research has significantly advanced our understanding of the role of MTP in these pathways at the molecular and cellular level. Biochemical studies suggest that initiation of lipidation of the nascent apolipoprotein B polypeptide may occur through a direct association with MTP. This early lipidation may be required to allow the nascent polypeptide to fold properly and therefore avoid ubiquitination and degradation. Concerning the addition of core neutral lipids in the later stages of lipoprotein assembly, cell culture studies show that MTP lipid transfer activity is not required for this to occur for apolipoprotein B-100 containing lipoproteins. Likewise, MTP does not appear to directly mediate addition of core neutral lipid to nascent apoB-48 particles. However, new data indicate that MTP is required to produce triglyceride rich droplets in the smooth endoplasmic reticulum which may supply the core lipids for conversion of nascent, dense apoB-48 particles to mature VLDL. In addition, assembly of dense apolipoprotein B-48 containing lipoproteins has been observed in mouse liver in the absence of MTP. As a result of these new data, an updated model for the role of MTP in lipoprotein assembly is proposed.  (+info)

Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. (5/80)

Abetalipoproteinemia (ABL) is an inherited disease characterized by the virtual absence of apolipoprotein B (apoB)-containing lipoproteins from plasma. Only limited numbers of families have been screened for mutations in the microsomal triglyceride transfer protein (MTP) gene. To clarify the genetic basis of clinical diversity of ABL, mutations of the MTP gene have been screened in 4 unrelated patients with ABL. Three novel mutations have been identified: a frameshift mutation caused by a single adenine deletion at position 1389 of the cDNA, and a missense mutation, Asn780Tyr, each in homozygous forms; and a splice site mutation, 2218-2A-->G, in a compound heterozygous form. The frameshift and splice site mutations are predicted to encode truncated forms of MTP. When transiently expressed in Cos-1 cells, the Asn780Tyr mutant MTP bound protein disulfide isomerase (PDI) but displayed negligible MTP activity. It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable. These results indicated that defects of the MTP gene are the proximal cause of ABL.  (+info)

Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients. (6/80)

Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a substitution of glutamine for arginine at residue 3500 of the apolipoprotein B-100 molecule. We have identified 23 heterozygotes and one homozygote for FDB (frequency 1:20) in a group of 510 patients with hypercholesterolemia. Mean age of the patients (18 females and 6 males) was 46 years. The diagnosis of FDB was based on point mutation PCR analysis of exon 26 of the apo B gene. Plasma lipids in heterozygous patients were: total cholesterol 8.76+/-1.2 mmol/l, triglycerides 1.42+/-0.5 mmol/l, HDL-cholesterol 1.43+/-0.3 mmol/l, LDL-cholesterol 6.69+/-1.2 mmol/l, apoB 1.69+/-0.4 g/l, Lp(a) 0.26+/-0.2 g/l. The most frequent apoE genotype was 3/3 (19 patients), apoE 3/4 genotype was found in 3 patients and one person had apoE 2/3. Xanthelasma palpebrarum was present in 4 patients and tendon xanthomas in 3 patients including the homozygote. Premature manifestation of coronary heart disease was revealed in 3 patients. Sixteen patients were treated with statins, a combination of statin and resin was used in 2 patients (including the homozygote), whereas six patients were treated with the diet only. We conclude that although the plasma lipid levels of total and LDL cholesterol in FDB patients are lower than in patients with familial hypercholesterolemia, the patients with FDB suffer from premature atherosclerosis. The therapeutic approach to FDB individuals and patients with familial hypercholesterolemia is very similar.  (+info)

A study of the abnormal lipoproteins in abetalipoproteinemia. (7/80)

The serum lipoproteins of five patients with abetalipoproteinemia (ABL) were separated by ultracentrifugation and then analyzed either intact or after delipidation. In accord with previous findings, all of the patients lacked serum particles with the characteristics of normal low-density lipoproteins (LDL) and of the LDL apoprotein as assessed by immunochemical methods. Each patient exhibited on every examination an abnormal particle, "LDL", which had the flotational properties of LDL, the polypeptide makeup of high-density lipoproteins HDL, the spectral and morphological characteristics of neither LDL nor HDL, and a relatively low content of cholesteryl esters. The HDL were abnormal in having a marked decrease in their total plasma content, an altered proportion of the subclasses HDL2 and HDL3, and a peculiar polypeptide distribution, comprising both normal and additional components, usually not seen in normal controls. The patients also exhibited a decrease of plasma lecithin-cholesterol acyl transferase (LCAT) activity which probably accounted for the low content of cholesteryl esters in both "LDL" and HDL, and in turn for the unusual appearance of "LDL" on electron microscopy. It is concluded that ABL is a disorder affecting all serum lipoprotein classes. Whether the abetalipoproteinemia previously described and noted in the current studies is related to or independent of the abnormalities observed in the other lipoproteins was not established. How the deficiency of LCAT activity, observed in all patients studied, contributed to some of the observed structural lipoprotein abnormalities also remained undetermined.  (+info)

Measurement of human high density lipoprotein apolipoprotein A-1 in serum by radioimmunoassay. (8/80)

A sensitive and specific double antibody radioimmunoassay for the major apolipoprotein (apo A-I) of human serum high density lipoprotein (HDL) was developed. Initial studies indicated that direct measurements of apo A-I concentration in whole untreated sera or isolated high density lipoprotein fractions yielded variable results, which were lower than those obtained in the corresponding samples which had been subjected to delipidation. Subsequently, it was observed that heating diluted sera or HDL for 3 hr at 52 degrees C prior to assay resulted in maximal increases in apo A-I immunoreactivity to levels comparable to those found in the delipidated specimens. This simple procedure permitted multiple sera to be assayed efficiently with full recovery of apo A-I.  (+info)

*Abetalipoproteinemia

... is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is ... "Abetalipoproteinemia - Genetics Home Reference". Retrieved 2008-02-24. Hentati, F; El-Euch, G; Bouhlal, Y; Amouri, R (2012). " ... The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active ... Abetalipoproteinemia at NLM Genetics Home Reference AllRefer.com Bassen-Kornzweig syndrome David Alexander Leaf. " ...

*Microsomal triglyceride transfer protein

Mar 1994). "Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride ... 1995). "The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain". Nat. Struct ... 1997). "A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal ... Mutations in MTP can cause abetalipoproteinemia. Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL ...

*Hypobetalipoproteinemia

Zamel, Rola; Khan, Razi; Pollex, Rebecca L.; Hegele, Robert A. (2008-07-08). "Abetalipoproteinemia: two case reports and ... Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia. A third form, ...

*DMOZ - Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic: Abetalipoproteinemia

"Health ... Abetalipoproteinemia" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - Yandex - ... Genetics Home Reference: Abetalipoproteinemia Provides information on this disorder that affects the absorption of fats, ...

*List of OMIM disorder codes

EDNRB Abetalipoproteinemia; 200100; MTP ACAD9 deficiency; 611126; ACAD9 Acampomelic campomelic dysplasia; 114290; SOX9 ...

*Malabsorption

partial, as observed in abetalipoproteinaemia. total, as in exceptional cases of coeliac disease. Depending on the nature of ... abetalipoproteinaemia etc.) Enteroscopy for enteropathy and jejunal aspirate and culture for bacterial overgrowth Capsule ...

*Acanthocyte

In abetalipoproteinemia, there is deficiency of lipids and vitamin E causing abnormal morphology of RBCs. Acanthocytosis can be ... They are seen on blood films in, among others abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and ... This particular cause of acanthocytosis (also known as abetalipoproteinemia, apolipoprotein B deficiency, and Bassen-Kornzweig ... Alterations in membrane lipids are seen in abetalipoproteinemia and liver dysfunction. Alteration in membrane structural ...

*Frank Bassen

It is also commonly recognized as a betalipoprotein deficiency or abetalipoproteinemia . Social Security Death Index. Frank ...

*Abraham Kornzweig

He was also widely known as the co-discoverer and namer of Bassen-Kornzweig Syndrome, also called Abetalipoproteinemia. It was ... It is also commonly recognized as a betalipoprotein deficiency or abetalipoproteinemia. Kornzweig's publications include over ...

*Lipoprotein

This terminology is sometimes used in describing lipid disorders such as abetalipoproteinemia. Atherosclerosis is the leading ...

*Autosomal recessive cerebellar ataxia type 1

Abetalipoproteinemia treatment is received for its potential in preventing vitamin E deficiency. (1000 mg/day for infants and ...

*Adrenal insufficiency

Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia. Of the synthesis ...

*Addison's disease

Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia. Of the synthesis ...

*Dyserythropoiesis

... and abetalipoproteinemia. Acquired causes include nutrient deficiency/malnutrition (e.g. cobalamine, folate, and iron), ...

*Apolipoprotein B

Abetalipoproteinaemia is usually caused by a mutation in the MTP gene, MTP. Mutations in gene APOB100 can also cause familial ...

*Vitamin E deficiency

Muller DP, Lloyd JK, Wolff OH (1983). "Vitamin E and neurological function: abetalipoproteinaemia and other disorders of fat ... Abetalipoproteinemia is a rare inherited disorder of fat metabolism that results in poor absorption of dietary fat and vitamin ...

*P4HB

"Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein ...

*Steatorrhea

... inflammatory bowel disease and abetalipoproteinemia. Other causes. Drugs that can produce steatorrhea include orlistat, a ...

*Subacute combined degeneration of spinal cord

... and abetalipoproteinemia (Bassen-Kornzweig syndrome). http://jn.nutrition.org/content/137/11/2481.full http://www. ...

*Ataxia

Diseases include vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick type C disease, ... and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome. ...

*Ankle jerk reflex

... autoimmune diseases Diabetic neuropathy Abetalipoproteinemia Electrolyte abnormalities Hypokalemia Deficiency disorders Vitamin ...

*Orphan drug

Abetalipoproteinemia Collaboration Foundation, Zellweger Baby Support Network, and the Friedreich's Ataxia Research Alliance ...

*Retinitis pigmentosa

... and absence of VLDL is seen in abetalipoproteinemia. RP is seen clinically in association with several other rare genetic ...

*List of MeSH codes (C10)

... abetalipoproteinemia MeSH C10.228.140.163.100.162 --- carbamoyl-phosphate synthase i deficiency disease MeSH C10.228.140.163. ...

*List of MeSH codes (C18)

... abetalipoproteinemia MeSH C18.452.100.100.162 --- carbamoyl-phosphate synthase i deficiency disease MeSH C18.452.100.100.175 ... abetalipoproteinemia MeSH C18.452.648.151.162 --- carbamoyl-phosphate synthase i deficiency disease MeSH C18.452.648.151.168 ... abetalipoproteinemia MeSH C18.452.648.556.500.440 --- hypobetalipoproteinemia MeSH C18.452.648.556.500.448 --- lecithin ... abetalipoproteinemia MeSH C18.452.339.875.440 --- hypobetalipoproteinemia MeSH C18.452.339.875.448 --- lecithin acyltransferase ...
TY - JOUR. T1 - Abetalipoproteinemia. T2 - descrizione di un caso.. AU - Guariso, G.. AU - Chiarelli, M. S.. AU - Nichetti, C.. AU - Montesco, M. C.. AU - Zancan, L.. PY - 1993/11. Y1 - 1993/11. N2 - The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. Their absence compromises the transport of absorbed fats out of the enterocytes into the lymphatic system and the general circulation. Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, retinitis pigmentosa and a chronic progressive neurological disorder with ataxia. We describe here the case of a 3 year old girl.. AB - The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. Their absence compromises the transport of absorbed fats out of the enterocytes into the lymphatic system and the general circulation. Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, ...
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Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large subunit of microsomal triglyceride transfer protein (MTP; OMIM 157147). To date at least 33 MTP mutations have been identified in 43 ABL patients. We describe the clinical progress of two patients, both currently in the fifth decade of life, who were diagnosed with ABL as children and were treated with high oral doses of fat soluble vitamins, including vitamin E over the last three decades. Treatment appears to have been associated with arrest of the neuropathy and other complications in both patients. Because pharmacologic inhibition of MTP is being developed as a novel approach to reduce plasma cholesterol for
Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia. It is a rare autosomal recessive disorder. Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear en masse, meaning that they happen all together, all the time. These symptoms come as follows: Failure to thrive/Failure to grow in infancy Steatorrhea/Fatty, pale stools Frothy stools Foul smelling stools Protruding abdomen Intellectual disability/developmental delay Developmental coordination disorder, evident by age ten Muscle weakness Slurred speech Scoliosis (curvature of the spine) Progressive decreased vision ...
Definition of normotriglyceridemic abetalipoproteinemia. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
Also known as Bassen-Kornzweig syndrome, acanthocytosis, or apolipoprotein B deficiency. A disorder of lipid metabolism characterized by fat malabsorption, acanthocytosis, retinopathy, and progressive neurologic disease.
Science 1988;241:591-593. 41. Linton MF, Pierotti V, Young SG: Reading-frame restoration with an apolipoprotein B gene frameshift mutation. Proc Natl Acad Sci USA 1992;89:11431-11435. 42. Wetterau JR, Aggerbeck LP, Bouma M-E, et al: Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992;258:999-1001. 43. Ross RS, Gregg RE, Law SW, et al: Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproteinemia at the molecular level. J Clin Invest 1988;81:590-595. Am J Physiol Gastrointest Liver Physiol 2007;292:G53-65. Farese RV, Veniant MM, Cham CM, et al: Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100. Proc Natl Acad Sci USA 1996;93:6393-6398. Veniant MM, Pierotti V, Newland D, et al: Susceptibility to atherosclerosis in mice expressing exclusively apolipoprotein B48 or apolipoprotein B100. J Clin Invest 1997;100:180-188. Yu Q, Chen D, Konig R, et al: APOBEC3B and APOBEC3C are potent ...
Microsomal triglyceride transfer protein large subunit is a protein that in humans is encoded by the MTTP gene. MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triaglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL are important for MTP binding. Click on genes, proteins and metabolites below to link to respective articles. [[File: [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] [[ ]] ,px,alt=Statin Pathway edit]] The interactive pathway map can be edited at ...
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Microsomal triglyceride transfer protein (MTP) is a heterodimeric protein consisting of a unique 97 kDa subunit and protein disulphide isomerase, that mediates the transfer of lipid between membranes and nascent lipoproteins. Mutations in the gene encoding the 97 kDa subunit of the protein cause the rare autosomal recessive disorder abetalipoproteinaemia. Recent findings in cultured cells indicate that the 5′ promoter region contains an insulin-responsive element, suggesting that the gene is responsive to insulin regulation. In this study we examined two cases where very-low-density lipoprotein (VLDL) secretion is markedly reduced: the streptozotocin-diabetic rat and 10-day-old suckling rats. In both cases MTP activity was unaltered compared with that in control animals. Equal levels of MTP were also apparent in the livers of all groups of animals, as measured by immunoblotting with an anti-MTP antiserum. These findings indicate that factors other than MTP activity are responsible for the ...
Synonyms: Bassen Kornzweig syndrome, Microsomal triglyceride transfer protein deficiency disease, Microsomal triglyceride transfer protein deficiency, ABL, Abetalipoproteinemia neuropathy, Apolipoprotein B deficiency, Betalipoprotein deficiency disease, Congenital betalipoprotein deficiency syndrome, MTP deficiency, Bassen-Kornzweig disease, Homozygous familial hypobetalipoproteinemia ...
MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008 ...
Rehberg EF et al. (1996) A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.. [^] ...
HEGELE, R.A.. Al-Shali, K., J. Wang, F. Rosen, and R.A. Hegele. 2003. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. Clinical Genetics 63: 135-138.. Argmann, C.A., C.G. Sawyez, C.J. McNeil, R.A. Hegele, and M.W. Huff. 2003. Activation of Peroxisome Proliferator-Activated Receptor Gamma and Retinoid X Receptor Results in Net Depletion of Cellular Cholesteryl Esters in Macrophages Exposed to Oxidized Lipoproteins. Arteriosclerosis, Thrombosis and Vascular Biology 23: 475-482.. Bhayana, S., V.M. Siu, G.I. Joubert, C.L. Clarson, H. Cao, and R.A. Hegele. 2002. Cardiomyopathy in congenital complete lipodystrophy. Clinical Genetics 61: 283-287.. Bjerregaard, P., E. Dewailly, T.K. Young, C. Blanchet, R.A. Hegele, S.E.O. Ebbesson, P.M. Risica, and G. Mulvad. 2003. Blood pressure among the Inuit (Eskimo) populations in the Arctic. Scandinavian Journal of Public Health 31: 92-99.. Bjerregaard, P., T.K. Young, and R.A. Hegele. 2003. Low incidence of cardiovascular disease among the Inuit ...
Many syndromes feature pigmentary retinal changes consistent with RP. In fact, some of the genes known to be mutated in these syndromes can be mutated in patients with isolated RP. For example, BBS3 and BBS9 are linked to Bardet-Biedl syndrome (BBS) which is characterized by RP, obesity, polydactyly, renal malformation, and hypogenitalism, but were also found to be mutated in patients with nonsyndromic RP. Other syndromes known to manifest with RP or RP-like lesions include Usher syndrome, Cohen syndrome, Cockayne syndrome, Refsum syndrome, neuronal ceroid lipofuscinosis, and abetalipoproteinemia. ...
List of all the English words with 20 letters not containing letter G. abdominohysterectomy, abequosyltransferase, abetalipoproteinemia, acanthokeratodermias, acetylaminopeptidase, acetylcholinesterase, acetyldihydrocodeine, acetylhexosaminidase, acetylmethylcarbinol
A List with 2,852 English Words With OTE - Words: ABETALIPOPROTEINAEMIA - ZYMOTECHNICS -- -- WordMine.info is a search engine for finding words. The searches can be done in a lots of different languages. Search Type: Crossword Solver, Words that starts with, Words Ending in, Words with, Palindrome Words Matching, Anagrams of, Words From Letters, Words In the Word, Words Matching Pattern,
Hypocholesterolemia (HC) is either primary or secondary. Secondary and nonfamilial causes of HC include a high catabolic state (malignancy, chronic liver disease, anorexia, hyperthyroidism, etc), malabsorption, intense dieting, lipid lowering medications and a primitive hunter-gatherer lifestyle. Primary hypocholesterolemia (PHC) includes primary hypobetalipoproteinemia (PHBL), which is a heterogeneous group of inherited disorders characterized by very low plasma level (,5th percentile of the distribution in the population) of low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (ApoB). PHBL has three subgroups: abetalipoproteinemia (ABL), familial hypobetalipoproteinemia (FHBL), and chylomicron retention disease (CRD). Tangier disease (TGD) is also a cause of PHC with a mean plasma total cholesterol (TC) of 1.75 ± 0.35 mmol/L. Patients with TGD have very low apolipoprotein AI (apo AI) and high density lipoprotein ... ...
Vitamin E, one of the most important lipid-soluble antioxidant nutrients, is found in nut oils, sunflower seeds, whole grains, wheat germ, and spinach. Severe deficiency, as may occur in persons with abetalipoproteinemia or fat malabsorption, profoundly affects the central nervous system and can cause ataxia and a peripheral neuropathy resemb...
Vitamin E, one of the most important lipid-soluble antioxidant nutrients, is found in nut oils, sunflower seeds, whole grains, wheat germ, and spinach. Severe deficiency, as may occur in persons with abetalipoproteinemia or fat malabsorption, profoundly affects the central nervous system and can cause ataxia and a peripheral neuropathy resemb...
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GI/Hepatobiliary Step 1 Review UMMSM Board Review Series Thursday, February 23rd, 2012 Graham Ingalsbe [email protected] First Aid GI Content • Anatomy - Peritoneal structures, ligaments, vasculature, histology, inguinal canal • Physiology - Hormones, GI cell bio, digestion/absorption, bilirubin • GI Pathology - Esophageal, absorption, stomach, IBD, intestinal/colonic, cancers • Hepatobiliary Pathology - Cirrhosis, liver disease, jaundice, hereditary conditions, biliary disease, gallstones, pancreatitis • Pharmacology - PUD, IBD, anti-emetics GI Topics covered in FA • • • • • • • • • • • • • • • • • • • • Salivary gland tumors • Achalasia • GERD • Varices • Esophagitis • Mallory-Weiss • Boerhaave • Esophageal Strictures • Plummor-Vinson • Barretts • Esophageal Cancers • Tropical Sprue • Whipples • Celiac • Disaccharidase • deficiency • Abetalipoproteinemia • Pancreatic • insufficiency • Celiac • Acute ...
List of all the English words with 20 letters finishing by A. abetalipoproteinemia, achondroplasiaphobia, cholangiocarcinomata, cystadenocarcinomata, dermoodontodysplasia, dysgammaglobulinemia, ganglioneuroblastoma, gynandromorphophilia, hebesphenomegacorona
Microsomal triglyceride transfer protein (MTP) is required for the assembly and cellular secretion of apolipoprotein B (apoB) -containing lipoproteins from the liver and intestine. The secretion pattern of apoB-containing lipoproteins is likely to influence the VLDL and LDL levels in plasma. By initial opportunistic screening for polymorphic sites in the regulatory region of the MTP gene by gene sequencing in 20 healthy male subjects, a common functional G/T polymorphism was detected 493 bp upstream from the transcriptional start point. There was differential binding of unique nuclear proteins at this site, as shown by electrophoretic mobility shift assay. The G variant seemed to bind two or three nuclear proteins that do not bind to the T variant. Expression studies with minimal promoter constructs linked to the chloramphenicol acetyltransferase reporter and transfected into HepG2 cells revealed marked enhancement of transcriptional activity with the T variant. The prevalence of the MTP promoter
Microsomal triglyceride transfer protein (MTP) is heterodimeric protein complex consisting of a unique 97 kDa protein with lipid transfer activity and the ubiquitous 58 kDa protein disulfide isomerase. The complex is essential for assembly of triglyceride-rich apolipoprotein (apo) B-containing lipoproteins. In tissues that do not synthesize apoB nor assemble lipoproteins, it is presumed to serve specialized needs in lipid trafficking, such as in the lipidation of CD1d in antigen presenting cells, including adipocytes.. Previous studies in our laboratory identified a novel isoform of MTP in mice that we named MTP-B. MTP-B has an alternative first exon (Ex1B) located 2.7 kbp upstream of the first exon (Ex1A) of MTP-A, the canonical isoform of MTP. The two mature isoforms, though nearly identical in sequence and function, have different tissue expression patterns.. In this study, we have identified another splice variant, MTP-C, that contains both exons Ex1B and Ex1A. PCR analysis revealed that ...
To the Editor:. In overweight subjects, an elevated supply of intracellular lipid stimulates the microsomal triglyceride transfer protein (MTP)-dependent assembly of apoB-containing lipoproteins in both intestinal and hepatic tissues, with subsequent secretion into the circulation. The severity of the dyslipidemia which results is however highly variable among overweight subjects, suggesting that genetic background may modulate the dyslipidemic effect of excess weight. In this context, a functional polymorphism in the MTP gene promoter region was recently described in which homozygotes for a G-to-T substitution, located 493 bp upstream from the transcription initiation site, display lower plasma levels of apoB-containing lipoproteins than carriers of the −493G allele. Hypothetically, such a functional polymorphism of the MTP promoter may attenuate the dyslipidemic effects of excess body weight and, in this way, equally attenuate the development of atherosclerotic disease in overweight ...
Its September again and that means its Gynecologic Cancer Awareness month. This may not mean much to a lot of people, but it means a whole lot to the 80,000 women per year in the United States who are diagnosed with a gynecologic cancer. Some of you may ask,
Words containing acanthocytosis, words that contain acanthocytosis, words including acanthocytosis, words with acanthocytosis in them
Background. Dirlotapide causes body weight reduction in obese dogs primarily due to reductions in food intake.. Aims. To investigate the efficacy and safety of dirlotapide in overweight Labradors in two masked, parallel-design studies. Methods. Study A: 42 dogs randomised to 0.0, 0.025, 0.05, 0.1, 0.2 or 0.4 mg dirlotapide/kg/day orally for 4 weeks. Study B: 72 dogs randomised to nine treatments: placebo (24 weeks); dirlotapide (24 weeks) followed by placebo (28 weeks); or dirlotapide (52 weeks); on diets containing 5%, 10% or 15% fat, offered in excess of maintenance requirements. Dogs were weighed and dirlotapide dose (initially 0.1 mg/kg) was adjusted monthly. After 24 weeks, dosages were reduced to stabilise body weight. Body composition (body fat, lean tissue and bone mineral content) was monitored using dual-energy x-ray absorptiometry. Multiple blood samples were collected for haematology and biochemistry.. Results. Study A: body weight and food intake decreased asymptotically with dose, ...
acanthocytosis definition: Noun (plural acanthocytoses) 1. (pathology) The presence of acanthocytes in the blood.Origin acanthocyte +‎ -osis (
Dyslipoproteinemia encompasses a range of disorders of lipoprotein metabolism that include both abnormally high and low lipoprotein concentrations, as well as abnormalities in the composition of the lipoprotein particles. Dyslipoproteinemias are clinically relevant in older adults primarily due to their role in the pathogenesis of atherosclerotic cardiovascular disease (ASCVD), which includes coronary heart disease (CHD), cerebrovascular disease, peripheral arterial disease (PAD), and chronic renal disease. Older patients account for greater than 75% of total cardiovascular disease (CVD) mortality and 50% of all acute myocardial infarctions (MIs) in the United States. Although CVD morbidity and mortality have declined over recent decades, the percent reduction of CVD events is nearly 50% less in older patient groups. Dyslipidemia is a risk factor for ASCVD in older adults aged 60 to 80, and strong outcome data support pharmacologic therapy in this age group; however, the data are more limited ...
Human genetic research can pinpoint drug targets by identifying complete loss-of-function mutations affecting a human gene product that, in turn, underlie a favorable phenotype.1 Most small-molecule oral drugs, monoclonal antibodies, or RNA-based strategies act by inhibiting a selected molecular target, thereby pharmacologically mimicking the naturally advantageous genetic deficiency. The fields of atherosclerosis and lipoprotein biology have several examples of drugs whose raison dêtre is to impersonate a naturally occurring, genetically determined beneficial phenotype.. Article see p 677. For instance, 3 new classes of agents approved in the United States reduce low-density lipoprotein (LDL)-cholesterol levels through nonstatin mechanisms.2,3 These include (1) an oral inhibitor of microsomal triglyceride transfer protein (MTP), namely lomitapide (Juxtapid; Aegerion); (2) an injectable antisense oligonucleotide against apolipoprotein (apo) B, namely mipomersen (Kynamro; ISIS-Genzyme); and (3) ...
Eye movement abnormalities in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gauchers disease, abetalipoproteinemia and Wilsons disease. The eye movement abnormalities in our two patients were suggestive of Niemann Pick disease type C, characterized by initial loss of voluntary vertical eye movements and subsequent loss of horizontal eye movements, with preservation of the vestibulo-ocular response. The characteristics of eye movements in storage disorders are different. In Gauchers disease a progressive horizontal gaze palsy, in abetalipoproteinemia a particular type of internuclear ophthalmoplegia with nystagmus of the adducting eye and in Wilsons disease slowing of saccades may be observed ...
The term acanthocytosis is derived from the Greek for thorn and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder
Although several proteins involved in the uptake, exchange, or transmembrane transport of lipids have been clearly involved in various aspects of CD1-mediated antigen presentation (3-8), the recently reported role of MTP remains somewhat elusive. The ER location of MTP, its coprecipitation with CD1d, and its well-established function in loading apoB with lipids have suggested that MTP might be a chaperone assisting the folding of nascent CD1d proteins through lipid loading. Indeed, chaperone-assisted folding and peptide loading are essential for MHC molecules, and it is logical to postulate that similar mechanisms might be associated with CD1 biosynthesis. However, some of the reported functional consequences of the genetic ablation or chemical inhibition of MTP were not fully consistent with this proposed function. For example, the decrease in CD1d surface expression was often modest and could not alone explain the profound defects in lipid antigen presentation seen upon genetic ablation of ...
Introduction: Lomitapide is a microsomal triglyceride transfer protein inhibitor indicated as adjunctive therapy for adults with homozygous familial hypercholesterolemia (HoFH). LOWER is a global observational registry to prospectively assess long-term, safety and effectiveness of lomitapide in clinical practice. Adult HoFH patients treated with lomitapide in clinical practice are eligible.. Results: As of March 1, 2016, 143 patients had been enrolled in the USA, Canada, EU and Taiwan (Table); 139 patients had lomitapide exposure data (median 17.7 months, range 0.3-35.9 months). Globally, median lomitapide dose was 10 mg QD (range 5 mg QOD-40 mg QD, 6-33 months). A ≥ 50% reduction in LDL-C at any time post-baseline was measured in 58% of patients; 62% of patients achieved LDL-C , 100 mg/dL and 37% achieved LDL-C , 70 mg/dL. AEs were experienced by 73% of patients; GI disorders were the most common (45%). Serious AEs occurred in 21 (15%) patients. Thirty-three (24%) patients discontinued ...
Looking for online definition of familial dysbetalipoproteinemia in the Medical Dictionary? familial dysbetalipoproteinemia explanation free. What is familial dysbetalipoproteinemia? Meaning of familial dysbetalipoproteinemia medical term. What does familial dysbetalipoproteinemia mean?
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function (By similarity). Can induce cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts (PubMed:24743151). Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride transfer protein (MTTP)-dependent mechanism, probably as a VLDL-associated protein that is subsequently transferred to HDL (By similarity).
Aegerion Pharmaceuticals, Inc., a biopharmaceutical company focused on the treatment of cardiovascular and metabolic disease, today announced top-line data from three separate Phase II trials involving its lead cholesterol management compound, AEGR-733, which is a microsomal triglyceride transfer protein (MTP) inhibitor. All three trials were designed to evaluate the efficacy, safety and tolerability of low doses of AEGR-733 alone and in combination with other lipid lowering agents such as Lipitor, Zetia and fenofibrate. The largest trial also included magnetic resonance spectroscopy (MRS) to quantify patients hepatic fat levels. Preliminary data from the trials indicates statistically significant reductions in patients low-density-lipoprotein cholesterol (LDL-C) vs. baseline, while at the same time suggesting a promising safety and tolerability profile, including low levels of hepatic fat accumulation. The three Phase II trials ranged in duration from 8 to 12 weeks and collected clinical data ...
Mttp - mouse gene knockout kit via CRISPR, 1 kit. |dl||dt|Kit Component:|/dt||dd|- |strong|KN310512G1|/strong|, Mttp gRNA vector 1 in |a href=http://www.origene.com/CRISPR-CAS9/Detail.
Red blood cells are disc shaped cells that carry oxygen in the blood. There are various disorders that can lead to an abnormal shape of these cells. The term acanthocytosis describes the presence of distorted red blood cells (acanthocytes) in the blood. The cells become denser and irregularly shaped with spiculated (sharp spur-like) protrusions. The normal shape of red blood cells are determined by certain proteins in its cell membrane. When there are certain defects or deficiencies of these proteins, abnormal shapes of the red blood cells are seen. However, these proteins are also common to other types of cells in the body like the nerve cells and brain tissue. This collectively leads to certain conditions marked by abnormalities of both the red blood cells and disturbances in brain function.. ...
We have reported studies characterizing small-molecule inhibitors that selectively inhibit PLTP activity and concomitantly reduce apoB secretion. In the present study, we identified small molecules that inhibit both PLTP and MTP activities, which are known to regulate apoB secretion. This is the first report to identify dual inhibitors for PLTP and MTP activities. The discovery was not expected based on the lack of homology of PLTP and MTP at protein sequence levels. Although CETP and PLTP have 40% homology and belong to the family of lipid transfer/lipopolysaccharide-binding proteins (Tollefson et al., 1988; Day et al., 1994), none of these compounds inhibit CETP activity (Luo et al., 2010). MTP and apoB belong to the vitellogenin family of lipid transfer proteins. Read et al. (2000) predicted the three-dimensional structure of the C-terminal lipid binding cavity of MTP based on the crystal structure of lipoviellin. The lipid cavity in MTP bears a resemblance to the lipid binding domain of ...
My research focuses on the study of the optical and electrical properties of organic (carbon-based) and printable semiconductors for optoelectronics and photonics. Research activities in my group span from the study of devices such as light-emitting diodes (LEDs), photovoltaic diodes (PVDs), field-effect transistors (FETs), lasers and sensors, to the investigation of supramolecular architectures for the control of the relevant solid-state properties of conjugated semiconductors. Over the years we have developed a keen interest in the engineering of the electrode-semiconductors interfaces, also with the help of non-invasive optical techniques such as electroabsorption spectroscopy. For example we were first to report an estimate of the work function of the hole-injection layer based on poly(3,4-ethylene dioxythiophene) doped with poly(styrene sulfonate) (PEDOT:PSS) within finished devices, and to correlate this with enhanced device performance in organic LEDs. I also have a strong interest in a ...
Aagenaes syndrome, Aarskog syndrome, Aase Smith syndrome, ABCD syndrome, Abderhalden Kaufmann Lignac syndrome, Abdominal aortic aneurysm, Abdominal chemodectomas with cutaneous angiolipomas, Abdominal cystic lymphangioma, Abdominal obesity metabolic syndrome, Aberrant subclavian artery, Abetalipoproteinemia, Abidi X-linked mental retardation syndrome, Ablepharon macrostomia syndrome, Abrikosovs tumor, Abruzzo Erickson syndrome, Absence of fingerprints congenital milia, Absence of gluteal muscle, Absence of septum pellucidum, Absence of Tibia, Absence of tibia with polydactyly, Absent breasts and nipples, Absent corpus callosum cataract immunodeficiency, Absent patella, Absent T lymphocytes, Abuse dwarfism syndrome, Acalvaria, Acanthamoeba infection, Acanthocheilonemiasis, Acanthocytosis, Acanthoma, Acanthosis nigricans, Acanthosis nigricans muscle cramps acral enlargement, Acardia, Acatalasemia, Accessory deep peroneal nerve, Accessory pancreas, ACDC, Aceruloplasminemia, Acetyl CoA ...
NASH is a clinico-pathological entity characterized by the development of histological changes of inflammation and fibrosis in the liver that are nearly identical to those induced by excessive alcohol intake, but in the absence of alcohol abuse. Nonalcoholic steatohepatitis occurs commonly children with additional comorbidities such as obesity and diabetes mellitus. Paralleling the increasing prevalence of obesity and type 2 diabetes in the pediatric population, nonalcoholic fatty liver disease (NAFLD) and especially its more severe histological form NASH, is expected to become one of the most common causes of end-stage liver disease in both children and young adults.. Although no genome wide association studies have been conducted in association with NASH to date, individual candidate gene investigations have identified several genes associated with increase susceptibility to NASH in adults including the microsomal triglyceride transfer protein (MTP) which regulates the incorporation of ...
Neurology news, research and treatment studies for epilepsy, neurodegenerative disorders, patients with MS and other brain and central nervous system disorders and diseases.

Small bowel (small intestine) - AbetalipoproteinemiaSmall bowel (small intestine) - Abetalipoproteinemia

Abetalipoproteinemia. Reviewer: Hanni Gulwani, M.D. (see Reviewers page) Revised: 14 December 2012, last major update August ... End of Small bowel (small intestine) > Malabsorption > Abetalipoproteinemia. This information is intended for physicians and ...
more infohttp://www.pathologyoutlines.com/topic/smallbowelabetalipoprotein.html

Abetalipoproteinemia - WikipediaAbetalipoproteinemia - Wikipedia

Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is ... "Abetalipoproteinemia - Genetics Home Reference". Retrieved 2008-02-24. Hentati, F; El-Euch, G; Bouhlal, Y; Amouri, R (2012). " ... The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active ... Abetalipoproteinemia at NLM Genetics Home Reference AllRefer.com Bassen-Kornzweig syndrome David Alexander Leaf. " ...
more infohttps://en.wikipedia.org/wiki/Abetalipoproteinemia

Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. | Journal of Medical GeneticsCompound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. | Journal of Medical Genetics

This is the first report of abetalipoproteinaemia resulting from compound heterozygosity for abetalipoproteinaemia and familial ... A 10 year old boy with abetalipoproteinaemia is reported. His mother and grandfather suffered from familial ...
more infohttp://jmg.bmj.com/content/27/2/133

Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia |...Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia |...

Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia. D. ... Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia ... Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia ... Low-density lipoproteins and adrenal cortisol production: studies in abetalipoproteinaemia and hypobetalipoproteinaemia ...
more infohttp://www.biochemsoctrans.org/content/9/1/50

Abetalipoproteinemia: descrizione di un caso.<...Abetalipoproteinemia: descrizione di un caso.<...

Abetalipoproteinemia: descrizione di un caso.. Translated title of the contribution. : Abetalipoproteinemia: case report. ... title = "Abetalipoproteinemia: descrizione di un caso.",. abstract = "The abetalipoproteinemia is a recessively inherited ... Abetalipoproteinemia : descrizione di un caso. / Guariso, G.; Chiarelli, M. S.; Nichetti, C.; Montesco, M. C.; Zancan, L. ... Guariso G, Chiarelli MS, Nichetti C, Montesco MC, Zancan L. Abetalipoproteinemia: descrizione di un caso. Minerva Pediatrica. ...
more infohttps://moh-it.pure.elsevier.com/en/publications/abetalipoproteinemia-case-report

DMOZ - Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic: AbetalipoproteinemiaDMOZ - Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic: Abetalipoproteinemia

"Health ... Abetalipoproteinemia" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - Yandex - ... Genetics Home Reference: Abetalipoproteinemia Provides information on this disorder that affects the absorption of fats, ...
more infohttp://dmoztools.net/Health/Conditions_and_Diseases/Neurological_Disorders/Brain_Diseases/Metabolic/Abetalipoproteinemia/

Abetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Anson, Singapore - View Doctors, Book Appointment Online | PractoAbetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Anson, Singapore - View Doctors, Book Appointment Online | Practo

Book Appointment Online, View Fees, Reviews Doctors for Abetalipoproteinemia Treatment in Anson, Singapore , Practo ... Treatment for abetalipoproteinemia in Anson, Singapore, find doctors near you. ...
more infohttps://www.practo.com/singapore/treatment-for-abetalipoproteinemia/anson

Abetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Yio Chu Kang, Singapore - View Doctors, Book Appointment Online |...Abetalipoproteinemia Treatment, Abetalipoproteinemia Cure in Yio Chu Kang, Singapore - View Doctors, Book Appointment Online |...

Book Appointment Online, View Fees, Reviews Doctors for Abetalipoproteinemia Treatment in Yio Chu Kang, Singapore , Practo ... Treatment for abetalipoproteinemia in Yio Chu Kang, Singapore, find doctors near you. ...
more infohttps://www.practo.com/singapore/treatment-for-abetalipoproteinemia/yio-chu-kang

Abetalipoproteinemia Treatment, Treatment for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai - View Doctors, Book...Abetalipoproteinemia Treatment, Treatment for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai - View Doctors, Book...

Doctors for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai , Lybrate ... Treatment for Abetalipoproteinemia in Fortis Hospital Kalyan West, Mumbai. Find Doctors Near You, Book Appointment, Consult ... HOW IS ABETALIPOPROTEINEMIA TREATED? Depending on age, patients can be given high doses of drugs to treat Abetalipoproteinemia ... ABETALIPOPROTEINEMIA Symptoms of Abetalipoproteinemia, which is disorder to absorb fat from food, generally found in kids, ...
more infohttps://www.lybrate.com/mumbai/treatment-for-abetalipoproteinemia/fortis-hospital-kalyan-west-mumbai

Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins - Full Text View - ClinicalTrials.govLipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins - Full Text View - ClinicalTrials.gov

Genetics Home Reference related topics: abetalipoproteinemia Genetic and Rare Diseases Information Center resources: ... Abetalipoproteinemia. Atherosclerosis. Arteriosclerosis. Arterial Occlusive Diseases. Vascular Diseases. Cardiovascular ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00001154?cond=%22Acanthocytosis%22&rank=2

TEMPLATETEMPLATE

Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. Clinical Genetics 63: 135-138. ...
more infohttp://www.uwo.ca/western/publications/0203/medicine/FBBC03.htm

Microsomal triglyceride transfer protein activity remains unchanged in rat livers under conditions of altered very-low-density...Microsomal triglyceride transfer protein activity remains unchanged in rat livers under conditions of altered very-low-density...

... in the gene encoding the 97 kDa subunit of the protein cause the rare autosomal recessive disorder abetalipoproteinaemia. ...
more infohttp://www.biochemj.org/content/310/1/11

Microsomales Triglycerid-TransferproteinMicrosomales Triglycerid-Transferprotein

Shoulders CC et al. (1993) Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal ... Heath KE et al. (1997) The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24). ... Rehberg EF et al. (1996) A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of ... Benayoun L et al. (2007) Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and ...
more infohttp://www.moldiag.com/moldiag/de/id/G0346

Plus itPlus it

Raabe M, Flynn LM, Zlot CH, Wong JS, Veniant MM, Hamilton RL, Young SG: Knockout of the abetalipoproteinemia gene in mice: ... Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature365 :65 -69, ...
more infohttp://diabetes.diabetesjournals.org/content/52/10/2539

Download Clinical Lipidology: A Companion to Braunwalds Heart by Christie M. Ballantyne MD PDF - wanderlust BooksDownload Clinical Lipidology: A Companion to Braunwald's Heart by Christie M. Ballantyne MD PDF - wanderlust Books

Ross RS, Gregg RE, Law SW, et al: Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproteinemia at the ... Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992;258:999-1001. 43. ...
more infohttp://blog.cristafreeman.com/index.php/library/clinical-lipidology-a-companion-to-braunwalds-heart-disease

Crenated RBCs (echinocytes) test lymphocytes granulocytes microcytic macrocytic normocyticCrenated RBCs (echinocytes) test lymphocytes granulocytes microcytic macrocytic normocytic

These cells are seen on blood films in, among others, abetalipoproteinemia, liver disorder, chorea acanthocytosis, McLeod ...
more infohttp://smrtx.com/1_2_27_5_crenated.htm

2,852 English Words  With OTE :: WordMine.info -- International Dictionary Search Engine2,852 English Words With OTE :: WordMine.info -- International Dictionary Search Engine

ABETALIPOPROTEINAEMIA - ZYMOTECHNICS -- -- WordMine.info is a search engine for finding words. The searches can be done in a ...
more infohttp://www.wordmine.info/Search.aspx?slang=en&stype=words-with&sword=OTE

Abetalipoproteinemia - Genetics Home Reference - NIHAbetalipoproteinemia - Genetics Home Reference - NIH

Individuals with abetalipoproteinemia usually have a low number of red blood cells (anemia) with abnormally star-shaped red ... Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called ... Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. ... Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008 Jul 8;3:19. doi: 10.1186/1750-1172-3-19 ...
more infohttps://ghr.nlm.nih.gov/condition/abetalipoproteinemia

Vitamin Replacement in Abetalipoproteinemia - Full Text View - ClinicalTrials.govVitamin Replacement in Abetalipoproteinemia - Full Text View - ClinicalTrials.gov

Vitamin Replacement in Abetalipoproteinemia. The safety and scientific validity of this study is the responsibility of the ... Abetalipoproteinemia is an inherited metabolic defect that prevents fat-soluble vitamins, such as A and E, from being absorbed ... Genetics Home Reference related topics: Abetalipoproteinemia Genetic and Rare Diseases Information Center resources: Retinitis ... In a rare lipid metabolic disorder called abetalipoproteinemia, a defect in the assembly of the fat and vitamin containing ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00004574?cond=%22familial+hypobetalipoproteinemia%22+OR+%22Hypobetalipoproteinemias%22&rank=5

Abetalipoproteinemia Learning CenterAbetalipoproteinemia Learning Center

Abetalipoproteinemia Abetalipoproteinemia (ABL) is an inherited condition that prevents the body from completely absorbing ...
more infohttps://www.aarpmedicareplans.com/channel/abetalipoproteinemia.html?hlpage=health_center&loc=basic_info_tab

Abetalipoproteinemia | Jewish Genetic Disease ConsortiumAbetalipoproteinemia | Jewish Genetic Disease Consortium

Abetalipoproteinemia [MTTP]: Severe malabsorption of dietary fats and fat-solublevitamins causing failure to thrive, diarrhea, ...
more infohttps://www.jewishgeneticdiseases.org/diseases/abetalipoproteinemia/

abetalipoproteinemia - Humpath.com - Human pathologyabetalipoproteinemia - Humpath.com - Human pathology

Bassen-Kornzweig syndrome WKP Abetalipoproteinemia is a rare autosomal recessive disorder that interferes with the normal ... Abetalipoproteinemia is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble ...
more infohttp://humpath.com/spip.php?article22714

Abetalipoproteinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsAbetalipoproteinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards integrated aliases for Abetalipoproteinemia:. Name: Abetalipoproteinemia 53 12 49 24 55 71 36 28 13 51 41 14 69 ... MalaCards organs/tissues related to Abetalipoproteinemia:. 38 Eye, Liver, Brain, Spinal Cord, Skeletal Muscle ... Drugs for Abetalipoproteinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):. (show all 13) #. Name. ... Articles related to Abetalipoproteinemia:. (show top 50) (show all 256) #. Title. Authors. Year. ...
more infohttp://www.malacards.org/card/abetalipoproteinemia

Abetalipoproteinemia - Global GenesAbetalipoproteinemia - Global Genes

Please join the RARE Portal to add diseases of interest to your personal profile. By creating a profile, you can receive news, resources and updates related to this disease as well as many other benefits. ...
more infohttps://globalgenes.org/disease/abetalipoproteinemia/news/
  • Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. (wikipedia.org)
  • These symptoms come as follows: Failure to thrive/Failure to grow in infancy Steatorrhea/Fatty, pale stools Frothy stools Foul smelling stools Protruding abdomen Intellectual disability/developmental delay Developmental coordination disorder, evident by age ten Muscle weakness Slurred speech Scoliosis (curvature of the spine) Progressive decreased vision Balance and coordination problems Acanthocytosis Retinitis pigmentosa Hypocholesterolemia/low blood cholesterol Abetalipoproteinemia affects the absorption of dietary fats, cholesterol, and certain vitamins. (wikipedia.org)
  • The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. (elsevier.com)
  • The initial workup of abetalipoproteinemia typically consists of stool sampling, a blood smear, and a fasting lipid panel though these tests are not confirmatory. (wikipedia.org)
  • In individuals with abetalipoproteinemia , the retinitis pigmentosa can result in complete vision loss. (nih.gov)
  • These symptoms come as follows: Failure to thrive/Failure to grow in infancy Steatorrhea/Fatty, pale stools Frothy stools Foul smelling stools Protruding abdomen Intellectual disability/developmental delay Developmental coordination disorder, evident by age ten Muscle weakness Slurred speech Scoliosis (curvature of the spine) Progressive decreased vision Balance and coordination problems Acanthocytosis Retinitis pigmentosa Hypocholesterolemia/low blood cholesterol Abetalipoproteinemia affects the absorption of dietary fats, cholesterol, and certain vitamins. (wikipedia.org)
  • We describe two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels with plasma lipid profiles similar to abetalipoproteinemia (ABL) patients. (resourcerepository.org)
  • Abetalipoproteinemia is an inherited metabolic defect that prevents fat-soluble vitamins, such as A and E, from being absorbed from the intestines into the bloodstream and from being secreted by the liver. (clinicaltrials.gov)
  • Abetalipoproteinemia (ABL) is an inherited condition that prevents the body from completely absorbing certain dietary fats. (aarpmedicareplans.com)
  • 49 Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. (malacards.org)
  • Abetalipoproteinemia is an autosomal recessive disease that causes the impaired absorption of dietary fats, cholesterol, and fat-soluble vitamins. (sema4.com)
  • The initial workup of abetalipoproteinemia typically consists of stool sampling, a blood smear, and a fasting lipid panel though these tests are not confirmatory. (wikipedia.org)
  • Expression and evidence for local synthesis in recessive abetalipoproteinemia. (moldiag.com)
  • This shows that despite the damaged intestinal absorption, the transport of vitamin A by retinol-binding proteins in serum is not impaired in abetalipoproteinemia. (statpearls.com)
  • A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? (resourcerepository.org)
  • What are the treatments for Abetalipoproteinemia? (webhealthnetwork.com)
  • The list of treatments mentioned in various sources for Abetalipoproteinemia includes the following list. (webhealthnetwork.com)
  • People with abetalipoproteinemia may also have other eye problems, including involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and weakness of the external muscles of the eye (ophthalmoplegia). (nih.gov)
  • Discussion group for people diagnosed with abetalipoproteinemia. (dmoztools.net)