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729 Possible Causes for ALA93THR, AND, ARG158CYS, DEFICIENCY,, LCAT

  • Lecithin Acyltransferase Deficiency

    -- Stop mutation in the LCAT gene.[ncbi.nlm.nih.gov] We describe a patient with LCAT deficiency.[ncbi.nlm.nih.gov] Lecithin cholesterol acyltransferase deficiency Specialty Clinical Lipidology Lecithin cholesterol acyltransferase deficiency ( LCAT deficiency ) is a disorder of lipoprotein[en.wikipedia.org] KEYWORDS: Cholesterol; FED; FLD; HDL; LCAT deficiency[ncbi.nlm.nih.gov] In this review, we describe 36 natural mutations in the LCAT gene that result in either familial LCAT deficiency (FLD) or the milder phenotype known as fish-eye disease (FED[ncbi.nlm.nih.gov]

    Missing: ALA93THR AND ARG158CYS
  • Fish-Eye Disease

    Direct sequencing of the LCAT gene revealed two novel missense mutations in exon 1 and exon 4, resulting in the substitution of Pro10 with Gln (P10Q) and Arg135 with Gln ([ncbi.nlm.nih.gov] Lecithin cholesterol acyltransferase deficiency Specialty Clinical Lipidology Lecithin cholesterol acyltransferase deficiency ( LCAT deficiency ) is a disorder of lipoprotein[en.wikipedia.org] Article 139 Downloads 19 Citations Summary Familial LCAT deficiency is due to deficiency of plasma lecithin-cholesterol acyltransferase.[link.springer.com] Both had normal cholesterol esterification rates in plasma and VLDL/LDL-depleted plasma, but reduced LCAT activity (50% that of normal).[ncbi.nlm.nih.gov] The proposition presented with HDL deficiency and corneal opacity.[ncbi.nlm.nih.gov]

    Missing: ALA93THR AND ARG158CYS
  • Apolipoprotein A-I Deficiency

    Mutations in the LCAT (LCAT deficiency, Fish Eye Disease) or ABCA1 gene (Tangier disease) may also be causal for HDL deficiency (hypoalphalipoproteinemia).[medical-genetics.de] Abstract PURPOSE: To report the histology of a cornea in a patient with apolipoprotein A-I (apoA-I) deficiency.[ncbi.nlm.nih.gov] Differential Diagnosis Familial LCAT Deficiency Fish Eye Disease Homozygous Tangier Disease Heterozygous Tangier Disease Apo A1 Deficiency Gene Defect LCAT LCAT ABCA1 ABCA1[wikidoc.org] Asztalos BF, Schaefer EJ, Horvath KV et al (2007) Role of LCAT in HDL remodeling: investigation of LCAT deficiency states.[link.springer.com] The coronary risk is considered to be lower in LCAT deficiency and Tangier disease compared to apoA-I deficiency.[medical-genetics.de]

    Missing: ALA93THR AND ARG158CYS
  • Hypoalphalipoproteinemia

    Carriers of LCAT mutation had lower LCAT activity and a tendency to reduced cholesterol esterification rate (CER) and LCAT mass as compared to non-carrier family members.[ncbi.nlm.nih.gov] […] by both decreasing apoA-I catabolism and increasing apoA-I synthesis, thus correcting the metabolic defects responsible for the hypoalphalipoproteinemia observed in LDLr deficiency[ncbi.nlm.nih.gov] […] disorder) Familial hypoalphalipoproteinemia Familial hypobetalipoproteinemia Familial lipoprotein lipase deficiency HDL deficiency high density lipoid deficiency High density[icd9data.com] Abstract Apolipoprotein (apo)A-I is the major protein component of HDL and the cofactor for LCAT.[ncbi.nlm.nih.gov] In rare instances, it may be due to mutations in the ApoA-1, ApoC-III, ApoA-IV gene complex or from the disorders Tangier Disease or LCAT deficiency.[clinicaladvisor.com]

    Missing: ALA93THR AND ARG158CYS
  • Tangier Disease

    METHODS: The ABCA1, apoA-I and LCAT genes of a 40-year-old male subject with serum HDL cholesterol of 0.06mmol/l were subjected to DNA sequencing.[ncbi.nlm.nih.gov] We compared normolipidemic probands and patients with apolipoprotein A-I (apoA-I) deficiency, apoE deficiency, or TD in terms of the plasma capacity to induce the efflux of[ncbi.nlm.nih.gov] Inhibition of LCAT by dithiobisnitrobenzoic acid led to the formation of alpha-LpA-I3 instead of alpha-LpA-I2.(ABSTRACT TRUNCATED AT 250 WORDS).[ncbi.nlm.nih.gov] LCAT and the LCAT activator apo A-1,bind to the discoidal particles, and the surface phospholipid and free cholesterol are converted into cholesteryl esters and lysolecithin[usmle.biochemistryformedics.com] A patient with asymptomatic hypocholesterolemia, mild hyperbilirubinemia, and splenomegaly was found, on lipoprotein analysis, to have Tangier disease (alpha-lipoprotein deficiency[ncbi.nlm.nih.gov]

    Missing: ALA93THR AND ARG158CYS
  • Lipoprotein Glomerulopathy

    All six patients showed proteinuria (1.6 to 10 g/d), normal lecithin-cholesterol acyltransferase (LCAT) activity, type III hyperlipoproteinemia-like lipoprotein profiles,[ncbi.nlm.nih.gov] Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipioproteinemia due to apolipoprotein E2 (Arg158Cys)/3 heterozygosity.[meducator3.net] An apoE-deficient mouse with introduced ApoE-Sendai gene (ApoE-Sendai mouse) developed a murine counterpart of LPG, whereas it was also reported that apoE-deficient mouse[ncbi.nlm.nih.gov] […] prion disease Fatal familial insomnia Gerstmann-Straussler-Scheinker syndrome Huntington disease-like 1 Inherited Creutzfeldt-Jakob disease Dysequilibrium syndrome Familial LCAT[csbg.cnb.csic.es] Moreover, the association between this mutation and classic E2 (Arg158Cys) was described in a previous case report of LPG [ 7 ].[karger.com]

    Missing: ALA93THR AND
  • Deficiency Disorder

    Hypobetalipoproteinemia Hypobetalipoproteinemia, familial Lipoprotein deficiency disorder Clinical Information A disorder of lipoprotein metabolism caused by mutations in the lcat[icd10data.com] This disease can be caused by malnutrition or an over dependence on a particular type of food or drink, such as maize or wine.[noorvitamins.com] Malnutrition can be prevented by getting adequate nutrition . Malnutrition tends to be more of a problem in developing countries.[medical-dictionary.thefreedictionary.com] Malnutrition and deficiency of these vital elements can lead to serious diseases and conditions. Diseases Caused By Nutritional Deficiencies: 1.[stylecraze.com] Types of Vitamin Deficiency Vitamin deficiency can be classified into two types: Primary Deficiency Primary deficiency is when an inadequate vitamin intake causes a person[noorvitamins.com]

    Missing: ALA93THR AND ARG158CYS
  • Cholesterol Ester Storage Disease

    More than 70 different mutations have been identified and appear to result in absence of LCAT production or synthesis of an enzyme with no alpha- or beta-LCAT activity (i.e[orpha.net] This enzyme deficiency may result in the excess hepatic cholesterol ester found in both conditions.[ncbi.nlm.nih.gov] Lysosomal Acid Lipase (LAL) deficiency is an inherited, genetic disorder.[cuh.nhs.uk] LCAT is present in both high-density lipoproteins (HDL) and very low and low-density lipoproteins (VLDL, LDL).[raredr.com] Colesterolul liber care paraseste tesutul este acceptat pe HDL unde este esterificat prin LCAT.[qreferat.com]

    Missing: ALA93THR AND ARG158CYS
  • Familial Hypercholesterolemia

    In addition, a coordinated decrease in the content of Apo L1 and LCAT in HDL3 has been related to the presence of corneal arcus and to bad prognosis in familial hypercholesterolemia[ncbi.nlm.nih.gov] Therefore, the patient was compound heterozygous for apo E1 (Arg142Ser) and apo E2 (Arg158Cys).[ncbi.nlm.nih.gov] In all experiments, except those in which the concentration of lipoprotein-deficient serum was varied ( ), the incubation medium contained 2.5 mg/ml of lipoprotein-deficient[dx.doi.org] A-II 1q21-q23 17 35–50 HDL Liver Activation of HL A-IV 11q23 46 HDL, chylomicron Gut Activation of LCAT, binding to LDLR A-V 11q23 38 VLDL, HDL Liver Activation of hepatic[accesspediatrics.mhmedical.com] Apolipoprotein B Thr71Ile 0.347 Apolipoprotein C3 C( 641)A 0.381 C( 482)T 0.267 T( 455)C 0.373 C1100T 0.260 C3175G (SstI) 0.111 T3206G 0.372 Apolipoprotein E Cys112Arg 0.200 Arg158Cys[dx.doi.org]

    Missing: ALA93THR AND
  • Hyperlipidemia due to Hepatic Triglyceride Lipase Deficiency

    Hypobetalipoproteinemia Hypobetalipoproteinemia, familial Lipoprotein deficiency disorder Clinical Information A disorder of lipoprotein metabolism caused by mutations in the lcat[icd10data.com] HL deficiency hyperlipidemia due to hepatic triglyceride lipase deficiency LIPC deficiency Chatterjee C, Sparks DL.[ghr.nlm.nih.gov] There was no change in LPL , HTGL , or LCAT [37] .[wikigenes.org] LCAT-Mangel, familiärer Laminopathie, lipodystrophe schwere, autosomal-kodominant Laron-Syndrom Laron-Syndrom mit Immundefekt Laurence-Moon-Syndrom Leprechaunismus Leydig-Zell-Hypoplasie[se-atlas.de] C-II deficiency (MIM 207750), and familial inhibitor to lipoprotein lipase (MIM 118830).[ommbid.mhmedical.com]

    Missing: ALA93THR AND ARG158CYS

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