WordNet

a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/07/24 21:52:36」(JST)

wiki en

Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,^[1] below the 5th percentile.^[2] The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.

Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a low cholesterol level may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease.

Causes

One form is thought to be caused by mutated apolipoprotein B.^[3]

Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia.

A third form, chylomicron retention disease (CRD), is associated with SARA2.^[4]

Laboratory results

Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.^{[citation needed]}

References

^ Schonfeld G, Lin X, Yue P (June 2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci. 62 (12): 1372–8. doi:10.1007/s00018-005-4473-0. PMID 15818469.
^ Schonfeld G (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res. 44 (5): 878–83. doi:10.1194/jlr.R300002-JLR200. PMID 12639976.
^ Young SG, Hubl ST, Chappell DA, et al. (June 1989). "Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46)". N. Engl. J. Med. 320 (24): 1604–10. doi:10.1056/NEJM198906153202407. PMID 2725600.
^ Tarugi P, Averna M, Di Leo E, et al. (December 2007). "Molecular diagnosis of hypobetalipoproteinemia: an ENID review". Atherosclerosis 195 (2): e19–27. doi:10.1016/j.atherosclerosis.2007.05.003. PMID 17570373.

This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. LDLコレステロール代謝の遺伝性疾患 inherited disorders of ldl cholesterol metabolism
2. 神経有棘赤血球症 neuroacanthocytosis
3. 遺伝性運動失調の概要 overview of the hereditary ataxias
4. 棘状細胞（棘状赤血球および有棘赤血球）と標的細胞 spiculated cells echinocytes and acanthocytes and target cells
5. 分娩の生理学 physiology of parturition

English Journal

A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle.

Menzi F1, Besuchet-Schmutz N1, Fragnière M1, Hofstetter S1, Jagannathan V1, Mock T2, Raemy A2, Studer E2, Mehinagic K3, Regenscheit N3, Meylan M2, Schmitz-Hsu F4, Drögemüller C1.
Animal genetics.Anim Genet.2016 Apr;47(2):253-7. doi: 10.1111/age.12410. Epub 2016 Jan 13.
Cholesterol deficiency, a new autosomal recessive inherited genetic defect in Holstein cattle, has been recently reported to have an influence on the rearing success of calves. The affected animals show unresponsive diarrhea accompanied by hypocholesterolemia and usually die within the first weeks o
PMID 26763170

Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia.

Magnolo L1, Noto D2, Cefalù AB2, Averna M2, Calandra S3, Yao Z4, Tarugi P1.
Biochimica et biophysica acta.Biochim Biophys Acta.2016 Apr;1864(4):371-9. doi: 10.1016/j.bbalip.2016.01.014. Epub 2016 Jan 26.
We have previously identified a deletion mutant of human apoB [apoB (Thr26_Tyr27del)] in a subject with primary hypobetalipoproteinemia. The present study determined the effect of Thr26_Tyr27del mutation on apoB secretion using transfected McA-RH7777 cells. Transient or stable transfection of apoB-4
PMID 26825690

Chylomicrons: Advances in biology, pathology, laboratory testing, and therapeutics.

Julve J1, Martín-Campos JM2, Escolà-Gil JC3, Blanco-Vaca F4.
Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2016 Apr 1;455:134-48. doi: 10.1016/j.cca.2016.02.004. Epub 2016 Feb 8.
The adequate absorption of lipids is essential for all mammalian species due to their inability to synthesize some essential fatty acids and fat-soluble vitamins. Chylomicrons (CMs) are large, triglyceride-rich lipoproteins that are produced in intestinal enterocytes in response to fat ingestion, wh
PMID 26868089

Japanese Journal

家族性低βリポ蛋白血症 (Familial Hypobetalipoproteinemia)

平山哲
病因・病態研究, 診断・治療の進歩, 112-115, 2012
NAID 50008436153

原発性低脂血症の病型分類と病因・臨床徴候・管理法原発性低LDLコレステロール血症家族性低βリポ蛋白血症 (脂質代謝異常--高脂血症・低脂血症) -- (脂質代謝異常の臨床低脂血症)

平山哲,三井田孝
日本臨床 65(-), 592-596, 2007-07
NAID 40015559460

小児吸収不全症候群の臨床的研究

細山田隆
福岡医学雑誌 97(11), 322-350[含英語文要旨], 2006-11-25
… The cases studied, included　one patient with cystic fibrosis, two with lactose intolerance with lactosuria(Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia(NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. …
NAID 120002646780

「低βリポ蛋白症」

Hypobetalipoproteinemia
Classification and external resources
Specialty	endocrinology
ICD-10	E78.6
ICD-9-CM	272.5
eMedicine	med/1117
MeSH	D006995
	[edit on Wikidata]