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Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B ,[1] [2] HDL cholesterol .
Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a very low cholesterol level (less than 100 mg/dl) may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease. In 1997 a study showed that Japanese Centenarians had tenfold increase of hypobetalipoproteinemia compared with controls.
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]
Diagnosis [ edit ]
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.[citation needed
Treatment [ edit ]
Early high doses of vitamin E in infants and children has shown to be effective.[5]
References [ edit ]
^ 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 .
^ Zamel, Rola; Khan, Razi; Pollex, Rebecca L.; Hegele, Robert A. (2008-07-08). "Abetalipoproteinemia: two case reports and literature review" . Orphanet Journal of Rare Diseases . 3 doi :10.1186/1750-1172-3-19 ISSN 1750-1172 . PMC 2467409 PMID 18611256 .
External links [ edit ]
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Hypobetalipoproteinemia&oldid=1227031123 " C a t e g o r y : ● L i p i d m e t a b o l i s m d i s o r d e r s H i d d e n c a t e g o r i e s : ● A r t i c l e s w i t h s h o r t d e s c r i p t i o n ● S h o r t d e s c r i p t i o n i s d i f f e r e n t f r o m W i k i d a t a ● A l l a r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s ● A r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s f r o m M a y 2 0 0 8
● T h i s p a g e w a s l a s t e d i t e d o n 3 J u n e 2 0 2 4 , a t 0 7 : 2 9 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
