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Disease Report for: Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)

Alternative name(s)|Lecithin_cholesterol acyltransferase deficiency
LCAT deficiency
Norum disease
fish-eye disease (FED)
fish eye disease
Mutation|91 mutations (e.g. : -14X_human-LCAT, A141T_human-LCAT, A211T_human-LCAT... more)
OMIM: |606967, 245900, 136120

LCAT facilitates the removal of excess cholesterol from peripheral tissues to the liver. A lack of LCAT activity would be expected to lead to accumulation of free cholesterol in the tissues. The gene encoding LCAT on chromosome 16 is the site of the mutation in both lecithin-cholesterol acyltransferase deficiency (LCATD) (Norum disease) and fish-eye disease(FED). Two phenotypic forms are found: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. In fish-eye disease, there is only a partial LCAT deficiency that affects only alpha-LCAT activity. It is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye').there is a specific inability of LCAT to esterify cholesterol in HDL, a deficiency of alpha-LCAT function. See LCAT Mutation database

    Title: A novel pathogenic variant in LCAT causing FLD. A case report
    Goni Ros N, Gonzalez-Tarancon R, Sienes Bailo P, Salvador-Ruperez E, Puzo Bayod M, Puzo Foncillas J
    Ref: Acta Clin Belg, 77:970, 2022 : PubMed


    Title: Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency
    Gomaraschi M, Ossoli A, Castelnuovo S, Simonelli S, Pavanello C, Balzarotti G, Arca M, Di Costanzo A, Sampietro T and Calabresi L <4 more author(s)>
    Ref: J Lipid Res, 58:994, 2017 : PubMed


    Title: A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia
    Rial-Crestelo D, Santos-Recuero I, Julve J, Blanco-Vaca F, Torralba M
    Ref: J Clin Lipidol, 11:1475, 2017 : PubMed


    Title: A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously
    Akiko T, Okura T, Nagao T, Kukida M, Enomoto D, Miyoshi KI, Higaki J, Kuroda M, Bujo H
    Ref: CEN Case Rep, 5:192, 2016 : PubMed


    Title: Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease
    Gopalakrishnan N, Arul R, Dhanapriya J, Kumar TD, Sakthirajan R, Balasubramaniyan T
    Ref: J Assoc Physicians India, 64:90, 2016 : PubMed


    Title: Secret in the eyes - fish eye disease
    Ingle VK, Maharana PK, Rajesh P
    Ref: Indian J Nephrol, 26:313, 2016 : PubMed


    Title: [Lecithin:Cholesterol Acyltransferase Deficiency, from genes to therapy]
    Lucca F, Ossoli A, Boscutti G, Franceschini G, Calabresi L
    Ref: G Ital Nefrol, 33:, 2016 : PubMed


    Title: Lipoprotein X Causes Renal Disease in LCAT Deficiency
    Ossoli A, Neufeld EB, Thacker SG, Vaisman B, Pryor M, Freeman LA, Brantner CA, Baranova I, Francone NO and Remaley AT <7 more author(s)>
    Ref: PLoS ONE, 11:e0150083, 2016 : PubMed


    Title: Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement
    Shamburek RD, Bakker-Arkema R, Auerbach BJ, Krause BR, Homan R, Amar MJ, Freeman LA, Remaley AT
    Ref: J Clin Lipidol, 10:356, 2016 : PubMed


    Title: Safety and Tolerability of ACP-501, a Recombinant Human Lecithin:Cholesterol Acyltransferase, in a Phase 1 Single-Dose Escalation Study
    Shamburek RD, Bakker-Arkema R, Shamburek AM, Freeman LA, Amar MJ, Auerbach B, Krause BR, Homan R, Adelman SJ and Remaley AT <3 more author(s)>
    Ref: Circulation Research, 118:73, 2016 : PubMed


    Title: Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria
    Althaf MM, Almana H, Abdelfadiel A, Amer SM, Al-Hussain TO
    Ref: J Nephropathol, 4:25, 2015 : PubMed


    Title: Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family
    Mahapatra HS, Ramanarayanan S, Gupta A, Bhardwaj M
    Ref: Indian J Nephrol, 25:362, 2015 : PubMed


    Title: Familial LCAT deficiency in a child with nephrotic syndrome
    Rajpal JS, Mapel-Lentz J, Mancera AD, Reed RC, Kim Y, Chavers BM
    Ref: Clin Nephrol, 82:211, 2014 : PubMed


    Title: Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment
    Naito S, Kamata M, Furuya M, Hayashi M, Kuroda M, Bujo H, Kamata K
    Ref: Atherosclerosis, 228:193, 2013 : PubMed


    Title: Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency
    Simonelli S, Tinti C, Salvini L, Tinti L, Ossoli A, Vitali C, Sousa V, Orsini G, Nolli ML and Calabresi L <1 more author(s)>
    Ref: Biologicals, 41:446, 2013 : PubMed


    Title: Familial LCAT deficiency: from renal replacement to enzyme replacement
    Stoekenbroek RM, van den Bergh Weerman MA, Hovingh GK, Potter van Loon BJ, Siegert CE, Holleboom AG
    Ref: Neth J Med, 71:29, 2013 : PubMed


    Title: Nephrotic syndrome caused by immune-mediated acquired LCAT deficiency
    Takahashi S, Hiromura K, Tsukida M, Ohishi Y, Hamatani H, Sakurai N, Sakairi T, Ikeuchi H, Kaneko Y and Nojima Y <5 more author(s)>
    Ref: J Am Soc Nephrol, 24:1305, 2013 : PubMed


    Title: Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease
    Calabresi L, Simonelli S, Gomaraschi M, Franceschini G
    Ref: Atherosclerosis, 222:299, 2012 : PubMed


    Title: Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia
    Conca P, Pileggi S, Simonelli S, Boer E, Boscutti G, Magnolo L, Tarugi P, Penco S, Franceschini G and Gomaraschi M <1 more author(s)>
    Ref: J Clin Lipidol, 6:244, 2012 : PubMed


    Title: Lecithin:cholesterol acyltransferase deficiency protects against cholesterol-induced hepatic endoplasmic reticulum stress in mice
    Hager L, Li L, Pun H, Liu L, Hossain MA, Maguire GF, Naples M, Baker C, Magomedova L and Ng DS <4 more author(s)>
    Ref: Journal of Biological Chemistry, 287:20755, 2012 : PubMed


    Title: Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency
    Savel J, Lafitte M, Pucheu Y, Pradeau V, Tabarin A, Couffinhal T
    Ref: Vasc Health Risk Manag, 8:357, 2012 : PubMed


    Title: [LCAT deficiency: a nephrological diagnosis]
    Boscutti G, Calabresi L, Pizzolitto S, Boer E, Bosco M, Mattei PL, Martone M, Milutinovic N, Berbecar D and Franceschini G <1 more author(s)>
    Ref: G Ital Nefrol, 28:369, 2011 : PubMed


    Title: Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase
    Holleboom AG, Kuivenhoven JA, van Olden CC, Peter J, Schimmel AW, Levels JH, Valentijn RM, Vos P, Defesche JC and Hollak CE <3 more author(s)>
    Ref: Atherosclerosis, 216:161, 2011 : PubMed


    Title: Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations
    Katayama A, Wada J, Kataoka HU, Yamasaki H, Teshigawara S, Terami T, Inoue K, Kanzaki M, Murakami K and Makino H <4 more author(s)>
    Ref: NDT Plus, 4:299, 2011 : PubMed


    Title: Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency
    Miarka P, Idzior-Walus B, Kuzniewski M, Walus-Miarka M, Klupa T, Sulowicz W
    Ref: Clin Exp Nephrol, 15:424, 2011 : PubMed


    Title: Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature
    Roshan B, Ganda OP, Desilva R, Ganim RB, Ward E, Haessler SD, Polisecki EY, Asztalos BF, Schaefer EJ
    Ref: J Clin Lipidol, 5:493, 2011 : PubMed


    Title: Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review
    Shoji K, Morita H, Ishigaki Y, Rivard CJ, Takayasu M, Nakayama K, Nakayama T, Inoue Y, Ayaki M, Yoshimura A
    Ref: Clin Nephrol, 76:323, 2011 : PubMed


    Title: Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
    Strom EH, Sund S, Reier-Nilsen M, Dorje C, Leren TP
    Ref: Ultrastruct Pathol, 35:139, 2011 : PubMed


    Title: A case of familial lecithin-cholesterol acyltransferase deficiency on hemodialysis for over 20 years
    Tsuchiya Y, Ubara Y, Hiramatsu R, Suwabe T, Hoshino J, Sumida K, Hasegawa E, Yamanouchi M, Hayami N and Oohashi K <4 more author(s)>
    Ref: Clin Nephrol, 76:492, 2011 : PubMed


    Title: Molecular analysis of a novel LCAT mutation (Gly179 --> Arg) found in a patient with complete LCAT deficiency
    Wang XL, Osuga J, Tazoe F, Okada K, Nagashima S, Takahashi M, Ohshiro T, Bayasgalan T, Yagyu H, Ishibashi S
    Ref: J Atheroscler Thromb, 18:713, 2011 : PubMed


    Title: Point mutation (C to T) of the LCAT gene resulting in R140C substitution
    Hirashio S, Izumi K, Ueno T, Arakawa T, Naito T, Taguchi T, Yorioka N
    Ref: J Atheroscler Thromb, 17:1297, 2010 : PubMed


    Title: Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype
    Baass A, Wassef H, Tremblay M, Bernier L, Dufour R, Davignon J
    Ref: Atherosclerosis, 207:452, 2009 : PubMed


    Title: Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype
    Park CW, Lim MH, Youn DY, Jung SE, Chung S, Ahn YS, Chang YS, Lee JH
    Ref: Atherosclerosis, 206:346, 2009 : PubMed


    Title: A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency
    Bender BU, Quaschning T, Neumann HP, Schmidt D, Kraemer-Guth A
    Ref: Clinical Chemistry & Laboratory Medicine, 45:483, 2007 : PubMed


    Title: Molecular characterization of two patients with severe LCAT deficiency
    Charlton-Menys V, Pisciotta L, Durrington PN, Neary R, Short CD, Calabresi L, Calandra S, Bertolini S
    Ref: Nephrol Dial Transplant, 22:2379, 2007 : PubMed


    Title: Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency
    Weber CL, Frohlich J, Wang J, Hegele RA, Chan-Yan C
    Ref: Nephrol Dial Transplant, 22:2084, 2007 : PubMed


    Title: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families
    Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G and Franceschini G <17 more author(s)>
    Ref: Arterioscler Thromb Vasc Biol, 25:1972, 2005 : PubMed


    Title: Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH
    Ref: Science, 305:869, 2004 : PubMed


    Title: A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene
    Frasca GM, Soverini L, Tampieri E, Franceschini G, Calabresi L, Pisciotta L, Preda P, Vangelista A, Stefoni S, Bertolini S
    Ref: Nephrol Dial Transplant, 19:1622, 2004 : PubMed


    Title: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996
    Maruyama T, Yamashita S, Matsuzawa Y, Bujo H, Takahashi K, Saito Y, Ishibashi S, Ohashi K, Shionoiri F and Kita T <2 more author(s)>
    Ref: J Atheroscler Thromb, 11:131, 2004 : PubMed


    Title: A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100
    Nanjee MN, Stocks J, Cooke CJ, Molhuizen HO, Marcovina S, Crook D, Kastelein JP, Miller NE
    Ref: Atherosclerosis, 170:105, 2003 : PubMed


    Title: Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia
    Recalde D, Cenarro A, Garcia-Otin AL, Gomez-Coronado D, Civeira F, Pocovi M
    Ref: Atherosclerosis, 163:49, 2002 : PubMed


    Title: Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men
    Talmud PJ, Hawe E, Robertson K, Miller GJ, Miller NE, Humphries SE
    Ref: Ann Hum Genet, 66:111, 2002 : PubMed


    Title: A novel TC deletion resulting in Pro(260)-->Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol
    Kasid A, Rhyne J, Zeller K, Pritchard H, Miller M
    Ref: Atherosclerosis, 156:127, 2001 : PubMed


    Title: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations
    Sessa A, Battini G, Meroni M, Daidone G, Carnera I, Brambilla PL, Vigano G, Giordano F, Pallotti F and Bertolini S <3 more author(s)>
    Ref: Nephron, 88:268, 2001 : PubMed


    Title: A common lecithin: cholesterol acyltransferase gene variant (Ser208-->Thr)
    Stocks J, Cooke CJ, Miller NE
    Ref: Atherosclerosis, 149:219, 2000 : PubMed


    Title: Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity
    Peelman F, Verschelde JL, Vanloo B, Ampe C, Labeur C, Tavernier J, Vandekerckhove J, Rosseneu M
    Ref: J Lipid Res, 40:59, 1999 : PubMed


    Title: Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144
    Teh EM, Chisholm JW, Dolphin PJ, Pouliquen Y, Savoldelli M, De Gennes JL, Benlian P
    Ref: Atherosclerosis, 146:141, 1999 : PubMed


    Title: Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband
    Argyropoulos G, Jenkins A, Klein RL, Lyons T, Wagenhorst B, St Armand J, Marcovina SM, Albers JJ, Pritchard PH, Garvey WT
    Ref: J Lipid Res, 39:1870, 1998 : PubMed


    Title: Molecular diagnosis of lecithin: cholesterol acyltransferase deficiency in a presymptomatic proband
    Cirera S, Julve J, Ferrer I, Mainou C, Bonet R, Martin-Campos JM, Gonzalez-Sastre F, Blanco-Vaca F
    Ref: Clinical Chemistry & Laboratory Medicine, 36:443, 1998 : PubMed


    Title: Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels
    Miettinen HE, Gylling H, Tenhunen J, Virtamo J, Jauhiainen M, Huttunen JK, Kantola I, Miettinen TA, Kontula K
    Ref: Arterioscler Thromb Vasc Biol, 18:591, 1998 : PubMed


    Title: Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea
    Blanco-Vaca F, Qu SJ, Fiol C, Fan HZ, Pao Q, Marzal-Casacuberta A, Albers JJ, Hurtado I, Gracia V and Pownall HJ <2 more author(s)>
    Ref: Arterioscler Thromb Vasc Biol, 17:1382, 1997 : PubMed


    Title: Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop)
    Guerin M, Dachet C, Goulinet S, Chevet D, Dolphin PJ, Chapman MJ, Rouis M
    Ref: Atherosclerosis, 131:85, 1997 : PubMed


    Title: A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease
    Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G
    Ref: J Lipid Res, 37:35, 1996 : PubMed


    Title: An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)
    Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, Kastelein JJ
    Ref: J Clinical Investigation, 98:358, 1996 : PubMed


    Title: A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency
    Okubo M, Aoyama Y, Shio H, Albers JJ, Murase T
    Ref: Int J Clin Lab Res, 26:250, 1996 : PubMed


    Title: Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
    Owen JS, Wiebusch H, Cullen P, Watts GF, Lima VL, Funke H, Assmann G
    Ref: Hum Mutat, 8:79, 1996 : PubMed


    Title: A unique genetic and biochemical presentation of fish-eye disease
    Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ
    Ref: J Clinical Investigation, 96:2783, 1995 : PubMed


    Title: Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency
    Miettinen H, Gylling H, Ulmanen I, Miettinen TA, Kontula K
    Ref: Arterioscler Thromb Vasc Biol, 15:460, 1995 : PubMed


    Title: Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA
    Miller M, Zeller K, Kwiterovich PC, Albers JJ, Feulner G
    Ref: J Lipid Res, 36:931, 1995 : PubMed


    Title: Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser)
    Moriyama K, Sasaki J, Arakawa F, Takami N, Maeda E, Matsunaga A, Takada Y, Midorikawa K, Yanase T and Arakawa K <3 more author(s)>
    Ref: J Lipid Res, 36:2329, 1995 : PubMed


    Title: A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency
    Steyrer E, Haubenwallner S, Horl G, Giessauf W, Kostner GM, Zechner R
    Ref: Hum Genet, 96:105, 1995 : PubMed


    Title: Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
    Wiebusch H, Cullen P, Owen JS, Collins D, Sharp PS, Funke H, Assmann G
    Ref: Hum Mol Genet, 4:143, 1995 : PubMed


    Title: [Familial LCAT deficiency]
    Kinoshita M
    Ref: Nihon Rinsho, 52:3210, 1994 : PubMed


    Title: Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease
    Rader DJ, Ikewaki K, Duverger N, Schmidt H, Pritchard H, Frohlich J, Clerc M, Dumon MF, Fairwell T and et al. <3 more author(s)>
    Ref: J Clinical Investigation, 93:321, 1994 : PubMed


    Title: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease
    Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B and Assmann G <6 more author(s)>
    Ref: J Clinical Investigation, 91:677, 1993 : PubMed


    Title: Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis
    Klein HG, Santamarina-Fojo S, Duverger N, Clerc M, Dumon MF, Albers JJ, Marcovina S, Brewer HB, Jr.
    Ref: J Clinical Investigation, 92:479, 1993 : PubMed


    Title: Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn)
    Klein HG, Lohse P, Duverger N, Albers JJ, Rader DJ, Zech LA, Santamarina-Fojo S, Brewer HB, Jr.
    Ref: J Lipid Res, 34:49, 1993 : PubMed


    Title: Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent
    Kastelein JJ, Pritchard PH, Erkelens DW, Kuivenhoven JA, Albers JJ, Frohlich JJ
    Ref: J Intern Med, 231:413, 1992 : PubMed


    Title: Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)
    Klein HG, Lohse P, Pritchard PH, Bojanovski D, Schmidt H, Brewer HB, Jr.
    Ref: J Clinical Investigation, 89:499, 1992 : PubMed


    Title: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.
    Skretting G, Blomhoff JP, Solheim J, Prydz H
    Ref: FEBS Letters, 309:307, 1992 : PubMed


    Title: An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease
    Skretting G, Prydz H
    Ref: Biochemical & Biophysical Research Communications, 182:583, 1992 : PubMed


    Title: Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease
    Bujo H, Kusunoki J, Ogasawara M, Yamamoto T, Ohta Y, Shimada T, Saito Y, Yoshida S
    Ref: Biochemical & Biophysical Research Communications, 181:933, 1991 : PubMed


    Title: A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features
    Clerc M, Dumon MF, Sess D, Freneix-Clerc M, Mackness M, Conri C
    Ref: European Journal of Clinical Investigation, 21:616, 1991 : PubMed


    Title: A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity
    Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G
    Ref: Proc Natl Acad Sci U S A, 88:4855, 1991 : PubMed


    Title: Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
    Gotoda T, Yamada N, Murase T, Sakuma M, Murayama N, Shimano H, Kozaki K, Albers JJ, Yazaki Y, Akanuma Y
    Ref: Lancet, 338:778, 1991 : PubMed


    Title: Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene
    Maeda E, Naka Y, Matozaki T, Sakuma M, Akanuma Y, Yoshino G, Kasuga M
    Ref: Biochemical & Biophysical Research Communications, 178:460, 1991 : PubMed


    Title: Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
    Taramelli R, Pontoglio M, Candiani G, Ottolenghi S, Dieplinger H, Catapano A, Albers J, Vergani C, McLean J
    Ref: Hum Genet, 85:195, 1990 : PubMed


    Title: A new case of familial lecithin: cholesterol acyltransferase (LCAT) deficiency--paradoxical findings regarding LCAT mass and activity in 23 members of a family
    Takata K, Kajiyama G, Horiuchi I, Watanabe T, Tokumo H, Hirata Y
    Ref: Jpn J Med, 28:765, 1989 : PubMed


    Title: Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease
    Carlson LA, Holmquist L, Assmann G
    Ref: Acta Med Scand, 222:345, 1987 : PubMed


    Title: Hypoalphalipoproteinemia resembling fish eye disease
    Frohlich J, Hoag G, McLeod R, Hayden M, Godin DV, Wadsworth LD, Critchley JD, Pritchard PH
    Ref: Acta Med Scand, 221:291, 1987 : PubMed


    Title: Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease
    Holmquist L, Carlson LA
    Ref: Acta Med Scand, 222:23, 1987 : PubMed


    Title: Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma
    Holmquist L, Carlson LA
    Ref: Acta Med Scand, 222:15, 1987 : PubMed


    Title: Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects
    Carlson LA, Holmquist L
    Ref: Acta Med Scand, 218:197, 1985 : PubMed


    Title: Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease
    Carlson LA, Holmquist L
    Ref: Acta Med Scand, 218:189, 1985 : PubMed


    Title: A new case of familial LCAT deficiency
    Vergani C, Catapano AL, Roma P, Giudici G
    Ref: Acta Med Scand, 214:173, 1983 : PubMed


    Title: Renal failure in familial lecithin: cholesterol acyltransferase deficiency
    Borysiewicz LK, Soutar AK, Evans DJ, Thompson GR, Rees AJ
    Ref: Q J Med, 51:411, 1982 : PubMed


    Title: Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency
    Frohlich J, Hon K, McLeod R
    Ref: American Journal of Human Genetics, 34:65, 1982 : PubMed


    Title: Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia
    Carlson LA, Philipson B
    Ref: Lancet, 2:922, 1979 : PubMed


    Title: Familial serum-cholesterol esterification failure. A new inborn error of metabolism
    Norum KR, Gjone E
    Ref: Biochimica & Biophysica Acta, 144:698, 1967 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page

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