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.Motor Skills Disorders: Marked impairments in the development of motor coordination such that the impairment interferes with activities of daily living. (From DSM-V)Hyperlipoproteinemia Type III: An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.HandwritingEncyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Steatorrhea: A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS.TriglyceridesApolipoprotein B-100: A 513-kDa protein synthesized in the LIVER. It serves as the major structural protein of low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). It is the ligand for the LDL receptor (RECEPTORS, LDL) that promotes cellular binding and internalization of LDL particles.Cholesterol Ester Transfer Proteins: Proteins that bind to and transfer CHOLESTEROL ESTERS between LIPOPROTEINS such as LOW-DENSITY LIPOPROTEINS and HIGH-DENSITY LIPOPROTEINS.Intestine, Small: The portion of the GASTROINTESTINAL TRACT between the PYLORUS of the STOMACH and the ILEOCECAL VALVE of the LARGE INTESTINE. It is divisible into three portions: the DUODENUM, the JEJUNUM, and the ILEUM.Physicians: Individuals licensed to practice medicine.Copyright: It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)Hypobetalipoproteinemia, Familial, Apolipoprotein B: An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Equipment Reuse: Further or repeated use of equipment, instruments, devices, or materials. It includes additional use regardless of the original intent of the producer as to disposability or durability. It does not include the repeated use of fluids or solutions.Electronic Mail: Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.Hydrocortisone: The main glucocorticoid secreted by the ADRENAL CORTEX. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions.Adrenal Glands: A pair of glands located at the cranial pole of each of the two KIDNEYS. Each adrenal gland is composed of two distinct endocrine tissues with separate embryonic origins, the ADRENAL CORTEX producing STEROIDS and the ADRENAL MEDULLA producing NEUROTRANSMITTERS.Calcium Sulfate: A calcium salt that is used for a variety of purposes including: building materials, as a desiccant, in dentistry as an impression material, cast, or die, and in medicine for immobilizing casts and as a tablet excipient. It exists in various forms and states of hydration. Plaster of Paris is a mixture of powdered and heat-treated gypsum.Lymphatic System: A system of organs and tissues that process and transport immune cells and LYMPH.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Coated Materials, Biocompatible: Biocompatible materials usually used in dental and bone implants that enhance biologic fixation, thereby increasing the bond strength between the coated material and bone, and minimize possible biological effects that may result from the implant itself.Defecation: The normal process of elimination of fecal material from the RECTUM.Constipation: Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.Laxatives: Agents that produce a soft formed stool, and relax and loosen the bowels, typically used over a protracted period, to relieve CONSTIPATION.Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.Cathartics: Agents that are used to stimulate evacuation of the bowels.Diarrhea: An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight.Movement: The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.Salivary Gland Calculi: Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands.Privacy: The state of being free from intrusion or disturbance in one's private life or affairs. (Random House Unabridged Dictionary, 2d ed, 1993)Confidentiality: The privacy of information and its protection against unauthorized disclosure.Computer Security: Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.Informed Consent: Voluntary authorization, by a patient or research subject, with full comprehension of the risks involved, for diagnostic or investigative procedures, and for medical and surgical treatment.Genetic Privacy: The protection of genetic information about an individual, family, or population group, from unauthorized disclosure.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.SingaporeBooksMyelin Sheath: The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.Myelin Proteins: MYELIN-specific proteins that play a structural or regulatory role in the genesis and maintenance of the lamellar MYELIN SHEATH structure.Myelin Basic Protein: An abundant cytosolic protein that plays a critical role in the structure of multilamellar myelin. Myelin basic protein binds to the cytosolic sides of myelin cell membranes and causes a tight adhesion between opposing cell membranes.Schwann Cells: Neuroglial cells of the peripheral nervous system which form the insulating myelin sheaths of peripheral axons.Myelin P0 Protein: A protein that accounts for more than half of the peripheral nervous system myelin protein. The extracellular domain of this protein is believed to engage in adhesive interactions and thus hold the myelin membrane compact. It can behave as a homophilic adhesion molecule through interactions with its extracellular domains. (From J Cell Biol 1994;126(4):1089-97)Oligodendroglia: A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as SATELLITE CELLS, PERINEURONAL of GANGLIA) according to their location. They form the insulating MYELIN SHEATH of axons in the central nervous system.Myelin Proteolipid Protein: A myelin protein that is the major component of the organic solvent extractable lipoprotein complexes of whole brain. It has been the subject of much study because of its unusual physical properties. It remains soluble in chloroform even after essentially all of its bound lipids have been removed. (From Siegel et al., Basic Neurochemistry, 4th ed, p122)

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)

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) is an extremely rare autosomal recessive disorder, which is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins. ABL results from mutations in the gene encoding the microsomal triglyceride transfer protein (MTP). We se …
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 ...
Naganawa S, Kodama T, Aburatani H, Matsumoto A, Itakura H, Takashima Y, Kawamura M, Muto Y. Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. Biochem Biophys Res Commun. 1992 Jan 15;182(1):99-104. ...
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.
This is a definition for Bassen-Kornzweig syndrome. Reftopia is a quick, simple, and easy to use online English language dictionary.
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 ...
Microsomal triglyceride transfer protein large subunit is a protein that in humans is encoded by the MTTP gene.[1][2] 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.[2] Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL are important for MTP binding. ...
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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.. [^] ...
Several metabolic diseases are known to affect the CNS and retina. 1. Neuronal ceroid lipofuscinosis (Batten disease) b. accumulation of lipopigments within lysosomes of neurons, c. progressive dementia, seizures, visual loss, pigmentary d. Findings: optic atrophy, macular pigmentary changes with mottling of the fundus periphery, low or absent ERG e. Later onset cases may have bulls-eye-maculopathy f. adult forms of NCL do not have ocular manifestations 2. Abetalipoproteinemia and vitamin A deficiency b. apolipoprotein B is not synthesized. Leads to fat malabsorption and deficiencies of fat-soluble vitamins d. most common cause of vitamin A deficiency retinopathy is in 3. Peroxisomal disorders and Refsum disease b. Dysfunction or absence of peroxisomes or peroxisomal enzymes a. excessive quantities of incompletely metabolized acid b. autosomal recessive except for type II (Hunter) - x-linked c. Retinal dystrophy caused by storage of heparan sulfate only: i. MPS IH (Hurler syndrome) and MPS IS ...
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 ...
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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. ...
Who was the first to write about a certain disease, diagnose it, and treat it? This book answers those questions for a wide range of diseases, from Abetalipoproteinemia to Zollinger-Ellison syndrome. What were the medical practitioners of previous generations hoping to achieve? What were their patients expecting of them? The answers are found in these quotations. Containing over 3,000 entries, and now updated with more than 450 new quotations, this new edition of Medicine in Quotations is the most comprehensive collection of its type published in over 30 years. It is much more than a random collection of famous sayings relating to sickness and health, disease and treatment; it is a portrait of medicine throughout recorded history. You will discover how medical concepts and practices have developed and shifted through the millennia, and how many illnesses recognized today were first identified a thousand or more years ago. Quotations are organized by topic, and each is fully referenced, allowing
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,
TY - JOUR. T1 - Adrenal function in heterozygous and homozygous hypobetalipoproteinemia. AU - Illingworth, D. Roger. AU - Kenny, Terry A.. AU - Orwoll, Eric. PY - 1982. Y1 - 1982. N2 - Corticosteroid synthesis in the human adrenal cortex requires a supply of cholesterol which can be derived from both local synthesis and the uptake of plasma lipoproteins. Studies with cultured adrenal cells have shown that such uptake i s mediated through the interaction of plasma low density lipo-proteins (LDL) and a specific cellular receptor (the LDL receptor). In the present study we have examined parameters of adrenal corticosteroid production in a patient with phenotypic abetalipoproteinemia (on the basis of homozygous hypobetalip-oproteinemia) and in three of her relatives with inherently low levels of LDL (heterozygous hypobetalipoproteinemia). These studies sought to determine whether the absence of LDL or an inherent reduction in their plasma concentration results in alterations in corticosteroid ...
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...
Question - Have normal HDL, LDL, cholesterol, blood pressure. Found raised CRP level. What does this indicate?. Ask a Doctor about diagnosis, treatment and medication for Joint pains, Ask a Radiologist
TY - JOUR. T1 - An intrinsic gut leptin-melanocortin pathway modulates intestinal microsomal triglyceride transfer protein and lipid absorption. AU - Iqbal, Jahangir. AU - Li, Xiaosong. AU - Chang, Benny Hung Junn. AU - Chan, Lawrence. AU - Schwartz, Gary J.. AU - Chua, Streamson C.. AU - Hussain, M. Mahmood. PY - 2010/7/1. Y1 - 2010/7/1. N2 - Fat is delivered to tissues by apoB-containing lipoproteins synthesized in the liver and intestine with the help of an intracellular chaperone, microsomal triglyceride transfer protein (MTP). Leptin, a hormone secreted by adipose tissue, acts in the brain and on peripheral tissues to regulate fat storage and metabolism. Our aim was to identify the role of leptin signaling in MTP regulation and lipid absorption using several mouse models deficient in leptin receptor (LEPR) signaling and downstream effectors. Mice with spontaneous LEPR B mutations or targeted ablation of LEPR B in proopiomelanocortin (POMC) or agouti gene related peptide (AGRP) expressing ...
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
In patients with HoFH, lomitapide led to a significant reduction of LDL-c levels and to achievement of EAS targets in many patients, while CV event rates correlated with LDL-c levels.
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,
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, ...
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
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?
1. Vrablík M, Češka R. Novinky v oblasti hypolipidemické léčby. Vnitř Lék 2014; 60: 924- 932. 2. Cuchel M, Bloedon LT, Szapary PO et al. Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. N Engl J Med 2007; 356: 148- 156. 3. Kastelein JJ, Wedel MK, Baker BF et al. Potent reduction of apolipoprotein B and low‑ density lipoprotein cholesterol by short‑term administration of an antisense inhibitor of apolipoprotein B. Circulation 2006; 114: 1729- 1735. 4. Sacks FM, Stanesa M, Hegele RA. Severe hypertriglyceridemia with pancreatitis: thirteen years treat-ment with lomitapide. JAMA Intern Med 2014; 174: 443- 447. doi: 10.1001/ jamainternmed.2013.13309. 5. Seidah NG. PCSK9 as a therapeutic target of dyslipidemia. Expert Opin Ther Targets 2009; 13: 19- 28. doi: 10.1517/ 14728220802600715. 6. Catapano AL, Papadopoulos N. The safety of therapeutic monoclonal antibodies: implications for cardiovascular disease and targeting the PCSK9 pathway. ...
Folding of the amino-terminal domain of apolipoprotein B initiates microsomal triglyceride transfer protein-dependent lipid transfer to nascent very low density
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.. ...
Past research has found that religiosity correlates with lower IQ, but this new study reveals evidence that complicates the picture. By Emma Young
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.
EDNRB Abetalipoproteinemia; 200100; MTP ACAD9 deficiency; 611126; ACAD9 Acampomelic campomelic dysplasia; 114290; SOX9 ...
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 ...
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, ...
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 ...
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 ...
It is also commonly recognized as a betalipoprotein deficiency or abetalipoproteinemia . Social Security Death Index. Frank ...
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 ...
This terminology is sometimes used in describing lipid disorders such as abetalipoproteinemia. Atherosclerosis is the leading ...
Abetalipoproteinemia treatment is received for its potential in preventing vitamin E deficiency. (1000 mg/day for infants and ...
Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia. Of the synthesis ...
Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia. Of the synthesis ...
... abetalipoproteinaemia etc.) ... partial, as observed in abetalipoproteinaemia.. *total, as in ...
... and abetalipoproteinemia. Acquired causes include nutrient deficiency/malnutrition (e.g. cobalamine, folate, and iron), ...
Abetalipoproteinaemia is usually caused by a mutation in the MTP gene, MTP. Mutations in gene APOB100 can also cause familial ...
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 ...
"Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein ...
... inflammatory bowel disease and abetalipoproteinemia. Other causes. Drugs that can produce steatorrhea include orlistat, a ...
... and abetalipoproteinemia (Bassen-Kornzweig syndrome). http://jn.nutrition.org/content/137/11/2481.full http://www. ...
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. ...
... autoimmune diseases Diabetic neuropathy Abetalipoproteinemia Electrolyte abnormalities Hypokalemia Deficiency disorders Vitamin ...
Abetalipoproteinemia Collaboration Foundation, Zellweger Baby Support Network, and the Friedreich's Ataxia Research Alliance ...
... and absence of VLDL is seen in abetalipoproteinemia. RP is seen clinically in association with several other rare genetic ...
... abetalipoproteinemia MeSH C10.228.140.163.100.162 --- carbamoyl-phosphate synthase i deficiency disease MeSH C10.228.140.163. ...
... 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 ...
... abetalipoproteinemia MeSH C16.320.565.150.162 --- carbamoyl-phosphate synthase i deficiency disease MeSH C16.320.565.150.168 ... abetalipoproteinemia MeSH C16.320.565.556.500.440 --- hypobetalipoproteinemia MeSH C16.320.565.556.500.448 --- lecithin ...
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. ... Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called ... Individuals with abetalipoproteinemia usually have a low number of red blood cells (anemia. ) with abnormally star-shaped red ... Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. ...
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. " ...
abetalipoproteinaemia Source:. A Dictionary of Biomedicine. Author(s):. John Lackie. , Brian NationBrian Nation. An autosomal ...
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 ...
Abetalipoproteinemia is transmitted in an autosomal recessive inheritance pattern.[10][11]. *Abetalipoproteinemia is caused by ... Abetalipoproteinemia Autosomal recessive *Mutation in MTP gene.. *Presents in with steatorrhea, progressive ataxia, dysarthria ... "Orphanet: Abetalipoproteinemia".. *↑ Burnett JR, Bell DA, Hooper AJ, Hegele RA (2012). "Clinical utility gene card for: ... "Orphanet: Abetalipoproteinemia".. *↑ SOBREVILLA LA, GOODMAN ML, KANE CA (1964). "DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, ...
Abetalipoproteinemia (ABL) is an extremely rare autosomal recessive disorder, which is characterized by defective assembly and ... Abetalipoproteinemia (ABL) is an extremely rare autosomal recessive disorder, which is characterized by defective assembly and ... Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia Hum Mutat. 2000 ...
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 ...
Abetalipoproteinemia Abetalipoproteinemia (ABL) is an inherited condition that prevents the body from completely absorbing ...
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 ...
Abetalipoproteinemia [MTTP]: Severe malabsorption of dietary fats and fat-solublevitamins causing failure to thrive, diarrhea, ...
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 ...
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. ...
Well-structured diagnostic treatment facility is the major driver of the global abetalipoproteinemia monitoring systems market ... Abetalipoproteinemia Monitoring Systems Market: Overview. Abetalipoproteinemia (ABL) is an inborn metabolic disorder. It has a ... Abetalipoproteinemia Monitoring Systems Market: Segmentation. The global abetalipoproteinemia monitoring systems market can be ... Abetalipoproteinemia Monitoring Systems Market: Regional Analysis. In terms of region, the global abetalipoproteinemia ...
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 ...
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Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, ... Abetalipoproteinemia (ABL; OMIM 200100) is a rare metabolic disorder with a frequency ,1 in 100,000. The clinical association ... Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T: Abetalipoproteinemia in Israel: evidence for a founder ... Hegele RA, Angel A: Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy. Can Med Assoc J ...
Abetalipoproteinemia. Introduction. Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder marked by low or absent ... Abetalipoproteinemia is caused by a homozygous autosomal recessive mutation in the MTTP gene. More than 33 mutations that cause ... Walsh MT,Iqbal J,Josekutty J,Soh J,Di Leo E,Özaydin E,Gündüz M,Tarugi P,Hussain MM, Novel Abetalipoproteinemia Missense ... Abetalipoproteinemia is a relatively rare genetic and acquired disorder that is characterized by acanthocytic red blood cells, ...
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. ...
... is a disease characterized by absolute LDL-deficiency in plasma. ... Shoulders CC et al. (1993) Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal ... Benayoun L et al. (2007) Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and ... Raabe M et al. (1998) Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and ...
Abetalipoproteinemia is caused by mutations in the gene MTTP. While only about 100 patients have been reported in the ... Abetalipoproteinemia is an autosomal recessive disease that causes the impaired absorption of dietary fats, cholesterol, and ... 3. Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T. Abetalipoproteinemia in Israel: evidence for a founder ... Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet. 1995 Dec57(6):1298-310. ...
"Abetalipoproteinemia." Syndromes: Rapid Recognition and Perioperative Implications Bissonnette B, Luginbuehl I, Marciniak B, ... Abetalipoproteinemia. In: Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. Bissonnette B, & Luginbuehl I, & Marciniak B, & ... Abetalipoproteinemia is caused by mutations in the gene responsible for microsomal triglyceride transfer protein (MTP). MTP is ... Abetalipoproteinemia. Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. Bissonnette B, & Luginbuehl I, & Marciniak B, & ...
http://ghr.nlm.nih.gov/condition/abetalipoproteinemia, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/ ...
Abetalipoproteinemia Written by Lisa Sencen on February 11, 2015. Aarskog Syndrome Written by Lisa Sencen on February 11, 2015 ...
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What is Abetalipoproteinemia? Compare Abetalipoproteinemia symptoms Abetalipoproteinemia treatments and . Share online in the ... Learn about Abetalipoproteinemia and other health conditions at HealtheTreatment. ... About Abetalipoproteinemia. Abetalipoproteinemia is a rare inherited disorder of fat metabolism. Abnormalities in fat ... Most effective Abetalipoproteinemia treatments reported by our membersLogin to add your rating >. * How effective? ...
  • 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)
  • 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)
  • Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. (lsbm.org)
  • Naganawa S, Kodama T, Aburatani H, Matsumoto A, Itakura H, Takashima Y, Kawamura M, Muto Y. Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. (lsbm.org)
  • 49 Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. (malacards.org)
  • 3. Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T. Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. (sema4.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)
  • 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). (medlineplus.gov)