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Optom Vis Sci 2018 Dec 29. Epub 2018 Dec 29.

Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York

Significance: Given that there are few reported cases of lecithin:cholesterol acyltransferase (LCAT) deficiency, recognition of the condition with proper management is notable. Long-term follow-up and contact lens fitting after penetrating keratoplasty provide best possible outcomes.

Purpose: The purpose of this study was to report a case of LCAT deficiency successfully treated with penetrating keratoplasty and longer-term follow-up with contact lens fitting. Read More

J Pharmacol Exp Ther 2018 Dec 18. Epub 2018 Dec 18.

NHLBI, NIH.

Familial LCAT deficiency (FLD) is due to mutations in Lecithin:cholesterol acyltransferase (LCAT), a plasma enzyme that esterifies cholesterol on lipoproteins. FLD is associated with markedly reduced levels of plasma high-density lipoproteins (HDL) and cholesteryl ester (CE), and the formation of a nephrotoxic lipoprotein called LpX. We used a mouse model in which the LCAT gene is deleted and a truncated version of the SREBP1a gene is expressed in the liver under the control of a protein-rich/carbohydrate-low (PRCL) diet-regulated PEPCK promoter. Read More

Ann Pathol 2018 Dec 12. Epub 2018 Dec 12.

Service d'anatomie et cytologie pathologiques, hôpital Timone, 264, rue Saint-Pierre, 13005 Marseille, France; Inserm U1263, C2VN, Aix Marseille université, 13006 Marseille, France.

Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Read More

J Proteomics 2018 Dec 6. Epub 2018 Dec 6.

Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Italy. Electronic address:

Genetic LCAT deficiency is a rare recessive autosomal disease due to loss-of-function mutations in the gene coding for the enzyme lecithin:cholesterol acyltransferase (LCAT). Homozygous carriers are characterized by corneal opacity, haemolytic anaemia and renal disease, which represent the first cause of morbidity and mortality in these subjects. Diagnostic and prognostic markers capable of early detecting declining kidney function in these subjects are not available, and the specific serum or urine proteomic signature of LCAT deficient carriers has never been assessed. Read More

J Cell Biochem 2018 Dec 2. Epub 2018 Dec 2.

Genetic laboratory of Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran.

Introduction: Lecithin cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder occurred by different mutations in the LCAT gene that cause two extremely rare syndromes including familial LCAT deficiency (FLD) and fish-eye disease (FED). Unlike FED in FLD renal failure is the most important defect due to deposition of abnormal lipoproteins in the renal stroma. In this study, FLD patients from the North of Iran were investigated for mutations in the LCAT gene. Read More

Nutr Metab Cardiovasc Dis 2019 Jan 26;29(1):4-8. Epub 2018 Sep 26.

Department of Medicine, University of Padua, Italy. Electronic address:

Aims: To review the formation, catabolism, and the possible atherogenic properties of Lp-X.

Data Synthesis: The conversion of cholesterol to bile acids is regulated by several mechanisms including cholesterol 7 alpha hydroxylase, fibroblast growth factor 19, and farnesoid X receptors. During cholestasis these mechanisms are altered and there is an accumulation of bile acids and cholesterol in plasma. Read More

Elife 2018 11 27;7. Epub 2018 Nov 27.

Department of Biological Sciences, Purdue University, Indiana, United States.

Lecithin:cholesterol acyltransferase (LCAT) and LCAT-activating compounds are being investigated as treatments for coronary heart disease (CHD) and familial LCAT deficiency (FLD). Herein we report the crystal structure of human LCAT in complex with a potent piperidinylpyrazolopyridine activator and an acyl intermediate-like inhibitor, revealing LCAT in an active conformation. Unlike other LCAT activators, the piperidinylpyrazolopyridine activator binds exclusively to the membrane-binding domain (MBD). Read More

Cornea 2018 Nov 2. Epub 2018 Nov 2.

Department of Ophthalmology, Haseki Training and Research Hospital, Health Sciences University, Istanbul, Turkey.

Purpose: To present ocular findings and anterior segment-optical coherence tomography (AS-OCT) imaging findings of 2 cases of fish-eye disease (FED) involving 2 novel genetic variants of the lecithin-cholesterol acyltransferase (LCAT) gene.

Methods: A case report.

Results: A 46-year-old woman and 63-year-old man presented with blurred vision, burning sensation, and whitening of both eyes for 2 and 3 years, respectively. Read More

Circulation 2018 Sep;138(10):1008-1011

Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (C.V., M.C.).

J Lipid Res 2018 Dec 17;59(12):2421-2435. Epub 2018 Oct 17.

Boston Heart Diagnostics, Framingham, MA 01702

We assessed secondary and genetic causes of severe HDL deficiency in 258,252 subjects, of whom 370 men (0.33%) and 144 women (0.099%) had HDL cholesterol levels <20 mg/dl. Read More

J Clin Biochem Nutr 2018 Sep 17;63(2):137-143. Epub 2018 Mar 17.

Division of Emergency and Critical Care Medicine, Department of Acute Medicine, Nihon University School of Medicine, 30-1 Oyaguchi Kamimachi, Itabashi-ku, Tokyo 173-8610, Japan.

Sepsis remains one of the leading causes of death in intensive care units. The early phase of sepsis is characterized by a massive formation of reactive oxygen and nitrogen species such as superoxide and nitric oxide. However, few comprehensive studies on plasma antioxidants have been reported. Read More

J Clin Lipidol 2018 Sep - Oct;12(5):1151-1156. Epub 2018 Jul 21.

Renal Unit, Antrim Hospital, Northern Health and Social Care Trust, Antrim, Northern Ireland, UK.

A 29-year-old lady was diagnosed with lecithin:cholesterol acyltransferase (LCAT) deficiency having presented with bilateral corneal clouding, severely reduced high density lipoproteins cholesterol, and proteinuria. She is a compound heterozygote with two LCAT gene mutations, one of which is novel, c.321C>A in exon 3. Read More

J Clin Lipidol 2018 Sep - Oct;12(5):1157-1163. Epub 2018 Jun 22.

Department of Clinical-Laboratory and Experimental-Research Medicine, Toho University Sakura Medical Center, Sakura, Japan. Electronic address:

Background: The significance of Lp8, that is, abnormal lipoprotein(s) detected in fraction 8 by combined high-performance liquid chromatography/gel filtration column in patients with familial lecithin:cholesterol acyltransferase (LCAT) syndrome, in relation to the severity of LCAT deficiency has not been analyzed.

Objective: We have studied Lp8 in a patient with primary biliary cirrhosis.

Methods: Plasma lipoproteins were analyzed using high-performance liquid chromatography/gel filtration column in the course of treatment of a 47-year-old female patient with primary biliary cirrhosis. Read More

J Clin Lipidol 2018 Jul - Aug;12(4):888-897.e2. Epub 2018 May 15.

Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.

Background: Recessive inherited disorder lecithin-cholesterol acyltransferase (LCAT) deficiency causes severe hypocholesterolemia and nephrotic syndrome. Characteristic lipoprotein subfractions have been observed in familial LCAT deficiency (FLD) with renal damage.

Objective: We described a case of acquired LCAT deficiencies with literature review. Read More

Am J Physiol Gastrointest Liver Physiol 2018 Oct 7;315(4):G454-G463. Epub 2018 Jun 7.

Department of Internal Medicine, University of Texas Southwestern Medical Center , Dallas, Texas.

Cholesteryl esters are generated at multiple sites in the body by sterol O-acyltransferase (SOAT) 1 or SOAT2 in various cell types and lecithin cholesterol acyltransferase in plasma. Esterified cholesterol and triacylglycerol contained in lipoproteins cleared from the circulation via receptor-mediated or bulk-phase endocytosis are hydrolyzed by lysosomal acid lipase within the late endosomal/lysosomal (E/L) compartment. Then, through the successive actions of Niemann-Pick C (NPC) 2 and NPC 1, unesterified cholesterol (UC) is exported from the E/L compartment to the cytosol. Read More

Biochim Biophys Acta Mol Cell Biol Lipids 2018 09 29;1863(9):991-997. Epub 2018 May 29.

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Italy. Electronic address:

Proprotein convertase subtilisin/kexin 9 (PCSK9), a protein regulating the number of cell-surface LDL receptors (LDLR), circulates partially associated to plasma lipoproteins. How this interaction alters PCSK9 plasma levels is still unclear. In the present study, we took advantage of the availability of a large cohort of carriers of genetic HDL disorders to evaluate how HDL defects affect plasma PCSK9 levels and its distribution among lipoproteins. Read More

Circulation 2018 Sep;138(10):1000-1007

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Italy (A.O., S.S., G.F., L.C.).

Background: Lecithin:cholesterol acyltransferase (LCAT) is the sole enzyme that esterifies cholesterol in plasma. Its role in the supposed protection from atherogenesis remains unclear because mutations in LCAT causing fish-eye disease (FED) or familial LCAT deficiency (FLD) have been reported to be associated with more or instead less carotid atherosclerosis, respectively. This discrepancy may be associated with the loss of cholesterol esterification on only apolipoprotein AI (FED) or on both apolipoprotein AI- and apolipoprotein B-containing lipoproteins (FLD), an aspect that has thus far not been investigated. Read More

Am J Ophthalmol Case Rep 2018 Jun 24;10:137-141. Epub 2018 Feb 24.

Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.

Purpose: We describe a case of fish-eye disease (FED) where the clinical features and visual function were investigated using anterior segment optical coherence tomography (OCT) and quantitative measurements.

Observations: A 36-year-old Japanese woman with FED presented with bilateral corneal opacities and visual complaints. Both contrast sensitivity and straylight were measured and OCT imaging was performed. Read More

J Clin Lipidol 2018 May - Jun;12(3):822-825. Epub 2018 Mar 9.

Guy's, St Thomas' and Lewisham and Greenwich Trust, St. Thomas' Hospital, London, United Kingdom.

We report the case of a 39-year-old West African man in whom high-density lipoprotein cholesterol (HDL-C) was identified as undetectable at <0.08 mmol/L. Total cholesterol in the same sample was 2. Read More

BMJ Case Rep 2018 Mar 13;2018. Epub 2018 Mar 13.

Department of Internal Medicine, Hospital Universitario 12 de Octubre, Madrid, Spain.

Metabolism 2018 06 9;83:245-255. Epub 2018 Mar 9.

Institute of Cardiovascular Sciences, Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Peking University, Beijing 100191, China. Electronic address:

Objective: Lecithin cholesterol acyltransferase (LCAT) plays a pivotal role in HDL metabolism but its influence on atherosclerosis remains controversial for decades both in animal and clinical studies. Because lack of cholesteryl ester transfer protein (CETP) is a major difference between murine and humans in lipoprotein metabolism, we aimed to create a novel Syrian Golden hamster model deficient in LCAT activity, which expresses endogenous CETP, to explore its metabolic features and particularly the influence of LCAT on the development of atherosclerosis.

Methods: CRISPR/CAS9 gene editing system was employed to generate mutant LCAT hamsters. Read More

Chem Pharm Bull (Tokyo) 2018 ;66(3):217-224

Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba University.

Despite the critical need for lifelong treatment of inherited and genetic diseases, there are no developmental efforts for most such diseases due to their rarity. Recent progress in gene therapy, including the approvals of two products (Glybera and Strimvelis) that may provide patients with sustained effects, has shed light on the development of gene therapy products. Most gene therapy products are based on either adeno-associated virus-mediated in vivo gene transfer to target tissues or administration of ex vivo gene-transduced hematopoietic cells. Read More

JIMD Rep 2018 6;40:55-62. Epub 2017 Oct 6.

I3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Oporto, Portugal.

Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation. Read More

J Clin Biochem Nutr 2017 Sep 28;61(2):108-117. Epub 2017 Jul 28.

School of Bioscience and Biotechnology, Tokyo University of Technology, 1404-1 Katakura-cho, Hachioji, Tokyo 192-0982, Japan.

Patients with post-cardiac arrest syndrome (PCAS) suffer from whole body ischemia/reperfusion injury similar to that experienced by newborn babies. Increased oxidative stress was confirmed in PCAS patients ( = 40) at the time of hospitalization by a significant increase in the percentage of the oxidized form of coenzyme Q10 in total coenzyme Q10 compared to age-matched healthy controls ( = 55). Tissue oxidative damage in patients was suggested by the significant increase in plasma levels of free fatty acids (FFA) and the significant decrease in polyunsaturated fatty acid contents in total FFA. Read More

J Clin Lipidol 2017 Nov - Dec;11(6):1475-1479.e3. Epub 2017 Aug 24.

Departamento de Medicina Interna, Servicio de Medicina Interna, Hospital Universitario de Guadalajara, Servicio de Salud de Castilla La Mancha, Guadalajara, Castilla la Mancha, Spain; Departamento de Medicina, Universidad de Alcalá, Madrid, Spain.

A patient from Romania with extraordinarily high total cholesterol levels and clinical and biochemical features consistent with familial lecithin-cholesterol acyltransferase deficiency is reported. The genetic analysis performed on our proband showed a novel homozygous mutation on codon 119 of lecithin-cholesterol acyltransferase gene that causes the substitution of glycine by aspartate. The same mutation, also in homozygosis, was observed in her older sister, whereas his brother presented it in heterozygosis. Read More

Ann Clin Biochem 2018 Jul 2;55(4):414-421. Epub 2017 Nov 2.

1 Lipoprotein Metabolism Section, Cardio-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Background Lecithin:cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol. Recombinant human LCAT (rhLCAT) is now being developed as an enzyme replacement therapy for familial LCAT deficiency and as a possible treatment for acute coronary syndrome. The current 'gold standard' assay for LCAT activity involves the use of radioisotopes, thus making it difficult for routine clinical use. Read More

Am J Kidney Dis 2017 Jul;70(1):e5-e6

Department of Pathology, Microbiology and Immunology, Vanderbilt University, Nashville, TN. Electronic address:

J Pharmacol Exp Ther 2017 Aug 2;362(2):306-318. Epub 2017 Jun 2.

Lipid Metabolism Section, Cardiovascular and Pulmonary Branch (L.A.F., S.J.D., S.M.G., B.L.V., R.D.S., A.T.R.), Systems Biology Center (A.A., M.G.), and Laboratory of Biochemistry (R.L.L.), National Institutes of Health National Heart, Lung, and Blood Institute, Bethesda, Maryland; Department of Chemistry, American University, Washington, DC (M.K., R.K.); University of Milano, Milano, Italy (A.F.O., L.C.); Department of Chemistry, Vanderbilt University, Nashville, Tennessee (R.F.K.); Departments of Pharmacology and Biological Chemistry, Life Sciences Institute, University of Michigan, Ann Arbor, Michigan (K.A.M., J.J.G.T.); and National Institutes of Health National Center for Advancing Translational Sciences, Bethesda, Maryland (M.S., A.J.)

Lecithin:cholesterol acyltransferase (LCAT) catalyzes plasma cholesteryl ester formation and is defective in familial lecithin:cholesterol acyltransferase deficiency (FLD), an autosomal recessive disorder characterized by low high-density lipoprotein, anemia, and renal disease. This study aimed to investigate the mechanism by which compound A [3-(5-(ethylthio)-1,3,4-thiadiazol-2-ylthio)pyrazine-2-carbonitrile], a small heterocyclic amine, activates LCAT. The effect of compound A on LCAT was tested in human plasma and with recombinant LCAT. Read More

CEN Case Rep 2016 Nov 7;5(2):192-196. Epub 2016 Jun 7.

Department of Clinical-Laboratory and Experimental-Research Medicine, Toho University Sakura Medical Center, Sakura, Chiba, 285-8741, Japan.

Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare inherited disorder that causes an extremely low high-density lipoprotein cholesterol concentration in serum. Recently, acquired LCAT deficiency caused by IgG antibodies to LCAT, without any LCAT gene mutation, was reported. Here we describe a case of acquired LCAT deficiency occurring in association with sarcoidosis. Read More

Exp Biol Med (Maywood) 2017 06 24;242(12):1244-1253. Epub 2017 Apr 24.

Children's Hospital Oakland Research Institute, Oakland, CA 94609, USA.

In sickle cell disease (SCD), alterations of cholesterol metabolism is in part related to abnormal levels and activity of plasma proteins such as lecithin cholesterol acyltransferase (LCAT), and apolipoprotein A-I (ApoA-I). In addition, the size distribution of ApoA-I high density lipoproteins (HDL) differs from normal blood. The ratio of the amount of HDL particle relative to the smaller higher density pre-β HDL (HDL) particle was shifted toward HDL. Read More

Scand J Clin Lab Invest 2017 07 10;77(4):235-236. Epub 2017 Apr 10.

a Department of Nutrition , University of Oslo , Oslo , Norway.

J Lipid Res 2017 05 28;58(5):994-1001. Epub 2017 Mar 28.

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy

The aim of this study was to evaluate the vasoprotective effects of HDL isolated from carriers of LCAT deficiency, which are characterized by a selective depletion of LpA-I:A-II particles and predominance of preβ migrating HDL. HDLs were isolated from LCAT-deficient carriers and tested in vitro for their capacity to promote NO production and to inhibit vascular cell adhesion molecule-1 (VCAM-1) expression in cultured endothelial cells. HDLs from carriers were more effective than control HDLs in promoting eNOS activation with a gene-dose-dependent effect ( = 0. Read More

PLoS One 2017 20;12(1):e0169939. Epub 2017 Jan 20.

Department of Medicine, University of California San Diego, La Jolla, California, United States of America.

Hypertriglyceridemia is an independent risk factor for cardiovascular disease. Apolipoprotein C-II (APOC2) is an obligatory cofactor for lipoprotein lipase (LPL), the major enzyme catalyzing plasma triglyceride hydrolysis. We have created an apoc2 knockout zebrafish model, which mimics the familial chylomicronemia syndrome (FCS) in human patients with a defect in the APOC2 or LPL gene. Read More

Kidney Int 2017 02;91(2):515-516

Department of Nephrology, Istanbul Medeniyet University, Goztepe Training and Research Hospital, Istanbul, Turkey.

G Ital Nefrol 2016 Malattie Metaboliche e Rene;33(S68)

Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis. Read More

G Ital Nefrol 2016 Malattie Metaboliche e Rene;33(S68)

LCAT synthesizes most of the plasma cholesteryl esters, and plays a major role in HDL metabolism. Mutations in the LCAT gene cause two syndromes, familial LCAT deficiency (FLD) and fish-eye disease (FED), both characterized by severe alterations in plasma lipoprotein profile. Renal disease is the major cause of morbidity and mortality in FLD cases, but an established therapy is not currently available. Read More

J Assoc Physicians India 2016 10;64(10):90-91

Professor, Department of Nephrology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu.

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol molecules in high-density lipoprotein(HDL) and low density-lipoprotein (LDL) particles. This enzyme deficiency is characterised by progressive corneal opacification, glomerulopathy, mild - moderate haemolytic anaemia and very low plasma levels of HDL. Read More

Prog Cardiovasc Dis 2016 Sep - Oct;59(2):97-106. Epub 2016 Aug 24.

Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA; Boston Heart Diagnostics, Framingham, MA.

Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk factor for cardiovascular disease (CVD), and is often observed in patients with hypertriglyceridemia, obesity, insulin resistance, and diabetes. Patients with marked deficiency of HDL-C (<20 mg/dL) in the absence of secondary causes are much less common (<1% of the population). These patients may have homozygous, compound heterozygous, or heterozygous defects involving the apolipoprotein (APO)AI, ABCA1, or lecithin:cholesterol acyl transferase genes, associated with apo A-I deficiency, apoA-I variants, Tangier disease , familial lecithin:cholesteryl ester acyltransferase deficiency, and fish eye disease. Read More

Clin Transplant 2016 10 24;30(10):1370-1374. Epub 2016 Sep 24.

Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USA.

Background: Lecithin cholesterol acyl transferase (LCAT) deficiency is a rare autosomal recessive disorder of lipoprotein metabolism that results in end-stage renal disease (ESRD) necessitating transplantation. As LCAT is produced in the liver, combined kidney and liver transplantation was proposed to cure the clinical syndrome of LCAT deficiency.

Methods: A 29-year-old male with ESRD secondary to LCAT deficiency underwent a sequential kidney-liver transplantation from the same living donor (LD). Read More

J Clin Lipidol 2016 May-Jun;10(3):650-3. Epub 2015 Dec 23.

Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX.

Lipoprotein-X, which is composed of phospholipids and non-esterified cholesterol, is an abnormal lipoprotein with a density range similar to LDL-C. The two most common ways which lipoprotein-X accumulates is from reflux of bile salts into plasma or deficiency in lecithin cholesterol acyltransferase. This is a case of severe hypercholesterolemia and liver disease in a 3- year old male that presented with pruritus, pale stool, scleral ictus, and abdominal distention. Read More

Yakugaku Zasshi 2016 ;136(5):705-9

Chiba University Hospital Center for Advanced Medicine.

Although protein replacement is an effective treatment for serum protein deficiencies such as diabetes and hemophilia, recombinant protein products are not available for all rare inherited diseases due to the instability of the recombinant proteins and/or to cost. Gene therapy is the most attractive option for treating patients with such rare diseases. To develop an effective ex vivo gene therapy-based protein replacement treatment requires recipient cells that differ from those used in standard gene therapy, which is performed to correct the function of the recipient cells. Read More

Biochim Biophys Acta 2016 Jul 14;1861(7):594-605. Epub 2016 Apr 14.

Keenan Research Centre, Li Ka Shing Knowledge Institute, Department of Medicine, St Michael's Hospital, Toronto, Canada; Department of Physiology, Faculty of Medicine, University of Toronto, Toronto, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada. Electronic address:

Non-alcoholic steatohepatitis (NASH), is the form of non-alcoholic fatty liver disease posing risk to progress into serious long term complications. Human and pre-clinical models implicate cellular cholesterol dysregulation playing important role in its development. Mouse model studies suggest synergism between dietary cholesterol and fat in contributing to NASH but the mechanisms remain poorly understood. Read More

J Clin Res Pediatr Endocrinol 2016 Sep 18;8(3):330-3. Epub 2016 Apr 18.

Uludağ University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Endocrinology, Bursa, Turkey, E-mail:

Objective: Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. There are limited data regarding endocrine dysfunctions related to IMDs in adults, however, no data exist in pediatric patients with IMDs. The aim of this study was to investigate endocrine dysfunctions in patients with IMDs by assessing their demographic, clinical, and laboratory data. Read More

J Clin Lipidol 2016 Mar-Apr;10(2):356-67. Epub 2015 Dec 23.

Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD, USA.

Background: Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including corneal opacities, anemia, and renal disease.

Objective: To determine if infusions of recombinant human LCAT (rhLCAT) could reverse the anemia, halt progression of renal disease, and normalize HDL in FLD.

Methods: rhLCAT (ACP-501) was infused intravenously over 1 hour on 3 occasions in a dose optimization phase (0. Read More

Indian J Nephrol 2016 Jan-Feb;26(1):55-6

Department of Pathology, Apollo Hospital, Telangana, Hyderabad, India.

Nephrotic syndrome can be rarely due to inherited disorders of enzymes. One such variety is lecithin cholesterol acyltransferase deficiency. It leads to accumulation of unesterified cholesterol in the eye and other organs. Read More

PLoS One 2016 26;11(2):e0150083. Epub 2016 Feb 26.

Lipoprotein Metabolism Section, Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Human familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by low HDL, accumulation of an abnormal cholesterol-rich multilamellar particle called lipoprotein-X (LpX) in plasma, and renal disease. The aim of our study was to determine if LpX is nephrotoxic and to gain insight into the pathogenesis of FLD renal disease. We administered a synthetic LpX, nearly identical to endogenous LpX in its physical, chemical and biologic characteristics, to wild-type and Lcat-/- mice. Read More

J Nephropharmacol 2017 5;6(1):23-26. Epub 2016 Jan 5.

Department of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, India.

Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency. To our knowledge, the present case is the first reported case of LCAT deficiency presenting with symptoms related to nephrotic syndrome in a patient with no obvious family history without any corneal deposits and normal HDL-C levels. Read More

Nephrology (Carlton) 2016 Jan;21(1):73-4

Department of Nephrology, Monash Medical Centre, Clayton, Victoria, Australia.

Indian J Nephrol 2015 Nov-Dec;25(6):362-5

Department of Nephrology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.

We report a family with a rare genetic disorder arising out of mutation in the gene that encodes for the enzyme lecithin-cholesterol acyltransferase (LCAT). The proband presented with nephrotic syndrome, hemolytic anemia, cloudy cornea, and dyslipidemia. Kidney biopsy showed certain characteristic features to suggest LCAT deficiency, and the enzyme activity in the serum was undetectable. Read More