Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review

2011 ◽  
Vol 76 (10) ◽  
pp. 323-328 ◽  
Author(s):  
K. Shoji ◽  
H. Morita ◽  
Y. Ishigaki ◽  
C.J. Rivard ◽  
M. Takayasu ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Cholesterol Acyltransferase ◽  
Coding Sequence ◽  
Lecithin Cholesterol Acyltransferase ◽  
Lcat Deficiency

Immune-mediated acquired lecithin-cholesterol acyltransferase deficiency: A case report and literature review

2018 ◽  
Vol 12 (4) ◽  
pp. 888-897.e2 ◽  
Author(s):  
Ryoichi Ishibashi ◽  
Minoru Takemoto ◽  
Yuya Tsurutani ◽  
Masayuki Kuroda ◽  
Makoto Ogawa ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Cholesterol Acyltransferase ◽  
Lecithin Cholesterol Acyltransferase ◽  
Immune Mediated

LCAT deficiency and pregnancy: Case report

2020 ◽  
pp. 1753495X2095057
Author(s):  
Raul Leal-Gonzalez ◽  
Álvaro Ramos-Reyes ◽  
Mariana Moncada-Madrazo ◽  
Irasema Apodaca-Ramos ◽  
Kimberly L Morales-Palomino ◽  
...  
Keyword(s):  
Case Report ◽  
Fetal Growth ◽  
Elective Caesarean Section ◽  
Cholesterol Acyltransferase ◽  
Third Trimester ◽  
Lecithin Cholesterol Acyltransferase ◽  
History Of ◽  
Autosomal Recessive Condition ◽  
Lcat Deficiency ◽  
Future Patient

Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive condition affecting lipid metabolism with a prevalence of less than 1:1,000,000. Described here is the case of a 29-year-old pregnant woman with a diagnosis of LCAT deficiency (c.140G>A in exon 4), who had three episodes of hypertriglyceridemia-induced pancreatitis and nephrotic-range proteinuria throughout the pregnancy. Furthermore, fetal ultrasounds carried out during the second and third trimester revealed a steady reduction in fetal growth rate, and fetal growth restriction (FGR) was diagnosed. The woman underwent an elective caesarean section at 33 weeks of gestation and delivered a healthy neonate. This case report adds knowledge of the natural history of LCAT deficiency during pregnancy and will be useful in future patient management.

A study of the structure of the gene for lecithin: Cholesterol acyltransferase in four unrelated individuals with familial lecithin: Cholesterol acyltransferase deficiency

1988 ◽  
Vol 74 (1) ◽  
pp. 91-96 ◽  
Author(s):  
S. E. Humphries ◽  
M. E. Chaves ◽  
F. Tata ◽  
V. L. M. Lima ◽  
J. S. Owen ◽  
...  
Keyword(s):  
Polyclonal Antibodies ◽  
Cholesterol Acyltransferase ◽  
Enzymatic Digestion ◽  
Large Deletion ◽  
Gene Sequences ◽  
Complementary Dna ◽  
Lecithin Cholesterol Acyltransferase ◽  
Normal Individuals ◽  
Low Levels ◽  
Lcat Deficiency

1. We have used polyclonal antibodies and a complementary DNA clone for human lecithinxholesterol acyltransferase (LCAT) to study LCAT protein and the structure of the LCAT gene, respectively, in patients with familial LCAT deficiency from Norway, Ireland, Germany and Italy. 2. The patients had low levels of non-functional LCAT protein in their serum as measured by rocket Immunoelectrophoresis; its mol. wt. of approximately 68 000 was identical with that of LCAT in normal plasma, as judged by immunoblotting. 3. Enzymatic digestion of DNA samples from the patients produced LCAT gene fragments which were indistinguishable from those found in normal individuals. 4. We conclude that LCAT deficiency in these patients is not caused by a large deletion or rearrangement of the LCAT gene sequences.

4.P.362 Lecithin: Cholesterol acyltransferase (LCAT) knockout mice: A new animal model for human LCAT-deficiency

1997 ◽  
Vol 134 (1-2) ◽  
pp. 372-373
Author(s):  
N. Sakai ◽  
B.L. Vaisman ◽  
C.A. Koch ◽  
R.F. Hoyt ◽  
S.M. Meyn ◽  
...  
Keyword(s):  
Animal Model ◽  
Knockout Mice ◽  
Cholesterol Acyltransferase ◽  
Lecithin Cholesterol Acyltransferase ◽  
Lcat Deficiency

scholarly journals Using Literature Based Discovery to Gain Insights Into the Metabolomic Processes of Cardiac Arrest

2021 ◽  
Vol 6 ◽  
Author(s):  
Sam Henry ◽  
D. Shanaka Wijesinghe ◽  
Aidan Myers ◽  
Bridget T. McInnes
Keyword(s):  
Cardiac Arrest ◽  
Survival Rates ◽  
Cholesterol Acyltransferase ◽  
Eye Disease ◽  
Lecithin Cholesterol Acyltransferase ◽  
Literature Based Discovery ◽  
Lcat Deficiency ◽  
Fish Eye ◽  
Cardiac Arrest Survival

In this paper, we describe how we applied LBD techniques to discover lecithin cholesterol acyltransferase (LCAT) as a druggable target for cardiac arrest. We fully describe our process which includes the use of high-throughput metabolomic analysis to identify metabolites significantly related to cardiac arrest, and how we used LBD to gain insights into how these metabolites relate to cardiac arrest. These insights lead to our proposal (for the first time) of LCAT as a druggable target; the effects of which are supported by in vivo studies which were brought forth by this work. Metabolites are the end product of many biochemical pathways within the human body. Observed changes in metabolite levels are indicative of changes in these pathways, and provide valuable insights toward the cause, progression, and treatment of diseases. Following cardiac arrest, we observed changes in metabolite levels pre- and post-resuscitation. We used LBD to help discover diseases implicitly linked via these metabolites of interest. Results of LBD indicated a strong link between Fish Eye disease and cardiac arrest. Since fish eye disease is characterized by an LCAT deficiency, it began an investigation into the effects of LCAT and cardiac arrest survival. In the investigation, we found that decreased LCAT activity may increase cardiac arrest survival rates by increasing ω-3 polyunsaturated fatty acid availability in circulation. We verified the effects of ω-3 polyunsaturated fatty acids on increasing survival rate following cardiac arrest via in vivo with rat models.

Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene

1991 ◽  
Vol 178 (2) ◽  
pp. 460-466 ◽  
Author(s):  
Eiichi Maeda ◽  
Yoshiko Naka ◽  
Takashi Matozaki ◽  
Maki Sakuma ◽  
Yasuo Akanuma ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Cholesterol Acyltransferase ◽  
Lecithin Cholesterol Acyltransferase ◽  
Lcat Deficiency
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