Familial hypobetalipoproteinemia: An underrecognized cause of lean NASH

Hepatology ◽  
2021 ◽  
Author(s):  
Seth Buryska ◽  
Joseph C. Ahn ◽  
Alina Allen ◽  
Vinaya Simha ◽  
Douglas A Simonetto
Keyword(s):  
Familial Hypobetalipoproteinemia

scholarly journals Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds

2002 ◽  
Vol 43 (3) ◽  
pp. 407-415 ◽  
Author(s):  
Rosalind J. Neuman ◽  
Bo Yuan ◽  
Daniela S. Gerhard ◽  
Kuang-Yu Liu ◽  
Pin Yue ◽  
...  
Keyword(s):  
Chromosome 3P ◽  
Familial Hypobetalipoproteinemia

Novel APOB mutation in familial hypobetalipoproteinemia

2021 ◽  
Author(s):  
M. Domenech ◽  
Isabel Llano-Rivas ◽  
Vicente Arroyo ◽  
Emilio Ortega
Keyword(s):  
Familial Hypobetalipoproteinemia

Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia

2008 ◽  
Vol 390 (1-2) ◽  
pp. 152-155 ◽  
Author(s):  
Amanda J. Hooper ◽  
Baris Akinci ◽  
Abdurrahman Comlekci ◽  
John R. Burnett
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Turkish Family ◽  
Familial Hypobetalipoproteinemia

scholarly journals Plasma Cholesterol and Bile Acid Abnormalities in Familial Hypobetalipoproteinemia (FHBLP)

1986 ◽  
Vol 14 (1) ◽  
pp. 191-194
Author(s):  
Hirosumi KANEKO ◽  
Kohya SATO ◽  
Takashi HASHIMOTO ◽  
Yoshisuke MARUHAMA
Keyword(s):  
Bile Acid ◽  
Plasma Cholesterol ◽  
Familial Hypobetalipoproteinemia

scholarly journals Role of the Gut in Lipid Homeostasis

2012 ◽  
Vol 92 (3) ◽  
pp. 1061-1085 ◽  
Author(s):  
Nada A. Abumrad ◽  
Nicholas O. Davidson
Keyword(s):  
Fatty Acid ◽  
Genetic Regulation ◽  
Density Lipoprotein ◽  
Microsomal Triglyceride Transfer Protein ◽  
Cholesterol Absorption ◽  
Lessons Learned ◽  
Lipid Homeostasis ◽  
Integrative View ◽  
Familial Hypobetalipoproteinemia

Intestinal lipid transport plays a central role in fat homeostasis. Here we review the pathways regulating intestinal absorption and delivery of dietary and biliary lipid substrates, principally long-chain fatty acid, cholesterol, and other sterols. We discuss the regulation and functions of CD36 in fatty acid absorption, NPC1L1 in cholesterol absorption, as well as other lipid transporters including FATP4 and SRB1. We discuss the pathways of intestinal sterol efflux via ABCG5/G8 and ABCA1 as well as the role of the small intestine in high-density lipoprotein (HDL) biogenesis and reverse cholesterol transport. We review the pathways and genetic regulation of chylomicron assembly, the role of dominant restriction points such as microsomal triglyceride transfer protein and apolipoprotein B, and the role of CD36, l-FABP, and other proteins in formation of the prechylomicron complex. We will summarize current concepts of regulated lipoprotein secretion (including HDL and chylomicron pathways) and include lessons learned from families with genetic mutations in dominant pathways (i.e., abetalipoproteinemia, chylomicron retention disease, and familial hypobetalipoproteinemia). Finally, we will provide an integrative view of intestinal lipid homeostasis through recent findings on the role of lipid flux and fatty acid signaling via diverse receptor pathways in regulating absorption and production of satiety factors.

Familial Hypobetalipoproteinemia

JAMA ◽  
1978 ◽  
Vol 240 (1) ◽  
pp. 47 ◽  
Author(s):  
Jeffrey A. Kahn
Keyword(s):  
Familial Hypobetalipoproteinemia
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