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569:. High-dose Vitamin E therapy helps the body restore and produce lipoproteins, which people with abetalipoproteinemia usually lack. Vitamin E also helps keep skin and eyes healthy; studies show that many affected males will have vision problems later on in life. Common additional supplementation includes medium chain fatty acids and linoleic acid. Treatments also aim to slow the progression of nervous system abnormalities. Developmental coordination disorder and muscle weakness are usually treated with physiotherapy or
426:(the light-sensitive layer in the posterior eye) that can progress to near-blindness (due to deficiency of vitamin A, retinol). Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal column tracts.
22:
435:
391:
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case study presented a female patient diagnosed at the age of 11. Despite the relatively late diagnosis, the patient married and at the age of 34, gave birth to a full-term healthy infant. Her medication included vitamin K 10 mg twice a week, beta-carotene 40,000 IU daily, vitamin A 10,000 IU daily, vitamin E 400 IU daily, vitamins B6 and B12, calcium, magnesium and eye drops.
418:). The stool may contain large chunks of fat and/or blood. Infants often present with gastrointestinal problems caused by the poor fat absorption, which also contributes to steatorrhea. Other features of this disorder may develop later in childhood and often impair the function of the nervous system. They can include poor muscle coordination, difficulty with balance and movement (
609:
A primary goal of abetalipoproteinemia research is to supply the fat-soluble vitamins the body lacks in the disease. Previous research considered the short-term use of intravenous infusion of vitamins A and E. The goal was to determine whether these infusions would delay or counteract the symptoms in
488:
Abetalipoproteinemia effects multiple physiological systems, the two most common being the nervous and the skeletal. Disruption of nervous function includes loss of reflexes, speech impairments, tremors or involuntary motor tics, or peripheral neuropathy (damage to the nerves outside of the brain and
512:
The initial workup of
Abetalipoproteinemia typically consists of stool sampling, a blood smear, and a fasting lipid panel, though these tests are not confirmatory. As the disease is rare, though a genetics test is necessary for diagnosis, it is generally not done initially. However, prenatal testing
617:
published a study testing alternative forms of vitamin E absorption. Currently, vitamin E is most often supplemented in the fat-soluble form vitamin E acetate. Due to fat malabsorption, the intended supplementation is considerably compromised. Two different forms were tested: vitamin E tocofersolan
624:
Currently, there is a clinical study recruiting abetalipoproteinemia patients to study inherited retinal degenerative disease. There is also a second clinical study, currently under recruitment, to investigate the consequences of deficiencies in lipophilic nutrients in this disease, such as lutein
585:
Prognosis can vary heavily based on the severity of the neurological dysfunction. If treatment is initiated early in disease the neurologic sequelae may be reversed and further deterioration can be prevented. Long-term outlook is reasonably good for most people when diagnosed and treated early. A
469:
gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are both necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and necessary for the efficient
553:
containing lipids are seen in enterocytes. This disorder may also result in fat accumulation in the liver (hepatic steatosis). Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are
401:
Signs and symptoms vary and present differently from person to person. In general, 80–99% of individuals exhibit malabsorption of fats and fat-soluble vitamins. Approximately 30–79% of people with the disease display symptoms related to abnormality of the retinal pigmentation, ataxia, muscular
470:
transport of these substances in the bloodstream. Most of the mutations in this gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. MTTP-associated mutations are inherited in an
749:
Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T (April 2007). "Abetalipoproteinemia in Israel: evidence for a founder mutation in the
Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient".
618:
and α-tocopherol acetate. The study concluded that plasma bioavailabilities were extremely low (2.8% and 3.1%, respectively). Additionally, plasma concentrations of tocopherol were not significantly different in patients.
1190:
Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, et al. (January 2013). "Novel mutations in SAR1B and MTTP genes in
Tunisian children with chylomicron retention disease and abetalipoproteinemia".
405:
The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active in this period). They can include failure to gain weight and grow at the expected rate
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489:
spinal cord). Peripheral neuropathy causes loss of sensation, weakness or numbness and pain in the extremities through stabbing, burning, or tingling sensations. Skeletal system developments often include
621:
This study provides new insight in vitamin E supplementation and suggests further research is needed with different forms of vitamin E as possible treatment options to abetalipoproteinemia.
513:
may be available for pregnancies identified to be at an increased risk (if both parents are unaffected carrier or one parent is affected and the other in a carrier).{}
557:
Multiple related disorders present with similar symptoms as abetalipoproteinemia that can provide a useful diagnosis through comparisons. Some of those disorders are:
1818:
1406:
Rader DJ, Brewer HB (August 1993). "Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease".
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Prolonged vitamin deficiencies can further compromise health. Specifically, a prolonged vitamin E deficiency can lead to the development of limiting
504:
Additional complications of the diseases if not properly treated include blindness, mental deterioration, ataxia, loss of peripheral nerve function.
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The disease is extremely rare with approximately 100 reported cases worldwide since it was first identified by doctors Bassen and
Kornzweig in 1950.
2051:
1919:
690:
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DemircioÄźlu F, Oren H, Yilmaz S, Arslan N, GĂĽrcĂĽ O, Irken G (August 2005). "Abetalipoproteinemia: importance of the peripheral blood smear".
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has also been useful. Nutritionists often work with medical professionals to design appropriate dietary treatments for their patients.
869:
Hasosah MY, Shesha SJ, Sukkar GA, Bassuni WY (October 2010). "Rickets and dysmorphic findings in a child with abetalipoproteinemia".
534:, or fat in the stool. As a result, this can be clinically diagnosed when foul-smelling stool is encountered. Low levels of plasma
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1811:
447:
216:
86:
58:
2026:
1141:"Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene"
215:) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in
39:
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1231:"A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)"
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resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of
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1880:
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54:
1563:"Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease"
1512:"Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease"
1047:
Hentati F, El-Euch G, Bouhlal Y, Amouri R (2012). "Ataxia with vitamin E deficiency and abetalipoproteinemia".
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The rate of occurrence of additional symptoms later in life varies and increases with age. These may include:
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More recent research has focused on different ways to supply the patient with vitamin E. In 2018, the
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Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018).
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Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018).
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Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, et al. (July 2011).
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387:. However, many of the observed effects are due to vitamin E deficiency in particular.
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Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, et al. (April 2013).
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pattern, which means both copies of the gene must be faulty to produce the disease.
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501:. Individuals often have abnormal bleeding due to the difficulty of forming clots.
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Treatment normally consists of rigorous dieting, involving massive amounts of
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644:"Malformation of the erythrocytes in a case of atypical retinitis pigmentosa"
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Moutzouri E, Elisaf M, Liberopoulos EN (March 2011). "Hypocholesterolemia".
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371:. This leads to a multiple vitamin deficiency, affecting the fat-soluble
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961:"Decreased fluidity of red cell membrane lipids in abetalipoproteinemia"
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Genetic and Rare
Diseases Information Center (GARD) – an NCATS Program
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are seen on blood smear. Since there is no or little assimilation of
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and blindness. If left untreated, the condition may lead to death.'
159:(due to lipid accumulation) characteristic of abetalipoproteinemia.
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1051:. Handbook of Clinical Neurology. Vol. 103. pp. 295–305.
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352:
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1090:"Multiple functions of microsomal triglyceride transfer protein"
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355:. People affected by this disorder are not able to make certain
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Ozsoylu S (Jan–Feb 2011). "Red cells in abetalipoproteinemia".
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163:
1443:"Abetalipoproteinemia: two case reports and literature review"
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Hussain MM, Rava P, Walsh M, Rana M, Iqbal J (February 2012).
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Abetalipoproteinemia affects the absorption of dietary fats,
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Abetalipoproteinemia has an autosomal recessive pattern of
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microsomal triglyceride transfer protein deficiency disease
1189:
868:
458:, a related condition, is associated with deficiencies of
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for "Inherited
Retinal Degenerative Disease Registry" at
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The inability to absorb fat in the ileum will result in
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Initial symptoms usually appear in infancy, including:
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803:. U.S. National Library of Medicine. February 1, 2018
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combined with cholesterol and particular fats called
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697:. U.S. National Institutes of Health. Archived from
1441:Zamel R, Khan R, Pollex RL, Hegele RA (July 2008).
832:
46:. Unsourced material may be challenged and removed.
1635:for "CArotenoid in hypoChOlesterolemia (CaCo)" at
941:(Report). National Organization for Rare Disorders
2018:
1920:Lecithin cholesterol acyltransferase deficiency
1353:. Treasure Island (FL): StatPearls Publishing.
1224:
1222:
959:Cooper RA, Durocher JR, Leslie MH (July 1977).
833:Burnett JR, Hooper AJ, Hegele RA (2018-10-25).
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841:. Seattle, WA, USA: University of Washington.
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1812:
1279:"Peripheral neuropathy - Symptoms and causes"
625:and carotenes, on retinal macular function.
410:); diarrhea; abnormal spiny red blood cells (
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454:) have been associated with this condition (
227:respectively. It is not to be confused with
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1866:Familial apoprotein CII deficiency/Type Ib
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1368:– via National Library of Medicine.
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106:Learn how and when to remove this message
2042:Syndromes affecting the endocrine system
1881:Familial dysbetalipoproteinemia/Type III
448:microsomal triglyceride transfer protein
433:
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217:microsomal triglyceride transfer protein
1378:
1037:
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422:), and progressive degeneration of the
397:in a patient with abetalipoproteinemia.
2052:Syndromes affecting the nervous system
2019:
1871:Familial hypercholesterolemia/Type IIa
685:
683:
681:
679:
642:Bassen FA, Kornzweig AL (April 1950).
402:hypotonia or reduced tendon reflexes.
1886:Familial hypertriglyceridemia/Type IV
1861:Lipoprotein lipase deficiency/Type Ia
1800:
965:The Journal of Clinical Investigation
719:
717:
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414:); and fatty, foul-smelling stools (
290:(problems with balance and movement)
44:adding citations to reliable sources
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1026:. U.S. National Library of Medicine
731:. U.S. National Library of Medicine
676:
604:
213:betalipoprotein deficiency syndrome
13:
1057:10.1016/B978-0-444-51892-7.00018-8
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610:patients. No results were posted.
316:Reflex and proprioception problems
14:
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1645:
1447:Orphanet Journal of Rare Diseases
1381:The Turkish Journal of Pediatrics
752:Molecular Genetics and Metabolism
554:necessary for proper absorption.
258:(i.e. failure to grow in infancy)
2006:APOA1 familial renal amyloidosis
1876:Combined hyperlipidemia/Type IIb
1420:10.1001/jama.1993.03510070087042
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597:. Some individuals may develop
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229:familial dysbetalipoproteinemia
31:needs additional citations for
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2027:Autosomal recessive disorders
1953:Chylomicron retention disease
901:Current Vascular Pharmacology
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1912:Hypoalphalipoproteinemia/HDL
1304:Pediatric Blood & Cancer
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313:Progressive decreased vision
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1948:Apolipoprotein B deficiency
1935:Hypobetalipoproteinemia/LDL
1345:Junaid SZ, Patel K (2024).
764:10.1016/j.ymgme.2006.12.010
456:apolipoprotein B deficiency
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2032:Lipid metabolism disorders
1205:10.1016/j.gene.2012.09.117
1094:Nutrition & Metabolism
913:10.2174/157016111794519354
661:10.1182/blood.V5.4.381.381
2047:Syndromes affecting blood
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1975:Barraquer–Simons syndrome
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1567:Journal of Lipid Research
1516:Journal of Lipid Research
937:Hussain MM (2023-02-17).
615:Journal of Lipid Research
573:. Dietary restriction of
538:are also characteristic.
264:(i.e. fatty, pale stools)
201:Bassen–Kornzweig syndrome
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134:Bassen-Kornzweig syndrome
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306:(curved lower back) and
1660:Genetics Home Reference
1024:Genetics Home Reference
729:Genetics Home Reference
541:There is an absence of
282:Intellectual disability
1893:Xanthoma/Xanthomatosis
1629:Clinical trial number
1611:Clinical trial number
1491:Clinical trial number
1460:10.1186/1750-1172-3-19
1347:"Abetalipoproteinamia"
1158:10.1186/1746-1596-8-54
1107:10.1186/1743-7075-9-14
1020:"Abetalipoproteinemia"
835:"Abetalipoproteinemia"
797:"Abetalipoproteinemia"
725:"Abetalipoproteinemia"
691:"Abetalipoproteinemia"
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55:"Abetalipoproteinemia"
871:Saudi Medical Journal
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337:Low blood cholesterol
1943:Abetalipoproteinemia
1856:Hypertriglyceridemia
1852:Hypercholesterolemia
1653:Abetalipoproteinemia
1145:Diagnostic Pathology
939:Abetalipoproteinemia
599:retinal degeneration
571:occupational therapy
332:Retinitis pigmentosa
284:/developmental delay
270:Foul smelling stools
197:Abetalipoproteinemia
126:Abetalipoproteinemia
40:improve this article
1903:Hypolipoproteinemia
1580:10.1194/jlr.M085043
1529:10.1194/jlr.M085043
310:(curved upper back)
236:autosomal recessive
2001:Lipoid proteinosis
1749:External resources
1637:ClinicalTrials.gov
1619:ClinicalTrials.gov
1499:ClinicalTrials.gov
1248:10.1002/humu.21494
523:, their levels in
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595:gait disturbances
446:Mutations in the
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256:Failure to thrive
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209:MTP deficiency
192:
191:
178:
172:
171:
145:
144:
136:
135:
132:
128:
127:
119:
114:
113:
28:
26:
19:
9:
6:
4:
3:
2:
2064:
2053:
2050:
2048:
2045:
2043:
2040:
2038:
2037:Rare diseases
2035:
2033:
2030:
2028:
2025:
2024:
2022:
2007:
2004:
2002:
1999:
1997:
1994:
1992:
1989:
1988:
1986:
1982:
1976:
1973:
1972:
1970:
1968:
1967:Lipodystrophy
1964:
1954:
1951:
1949:
1946:
1944:
1941:
1940:
1938:
1936:
1932:
1926:
1923:
1921:
1918:
1917:
1915:
1913:
1909:
1906:
1904:
1900:
1894:
1891:
1887:
1884:
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1879:
1877:
1874:
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1869:
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1864:
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1859:
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1853:
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1837:
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1725:
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1703:
1702:
1698:
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1688:
1687:
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1679:
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1675:
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1666:
1659:
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1638:
1634:
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1626:
1620:
1616:
1615:
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1596:
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1568:
1564:
1557:
1549:
1545:
1540:
1535:
1530:
1525:
1521:
1517:
1513:
1506:
1500:
1496:
1495:
1488:
1480:
1476:
1471:
1466:
1461:
1456:
1452:
1448:
1444:
1437:
1429:
1425:
1421:
1417:
1413:
1409:
1402:
1394:
1390:
1386:
1382:
1375:
1360:
1356:
1352:
1348:
1341:
1333:
1329:
1325:
1321:
1317:
1313:
1309:
1305:
1298:
1284:
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1274:
1266:
1262:
1258:
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1240:
1236:
1232:
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1223:
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1198:
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1186:
1178:
1174:
1169:
1164:
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1127:
1123:
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1113:
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1103:
1099:
1095:
1091:
1084:
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1072:
1068:
1066:9780444518927
1062:
1058:
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1021:
1015:
1013:
1011:
1009:
1007:
1005:
996:
992:
987:
982:
978:
974:
971:(1): 115–21.
970:
966:
962:
955:
940:
933:
931:
922:
918:
914:
910:
907:(2): 200–12.
906:
902:
895:
893:
884:
880:
876:
872:
865:
863:
861:
859:
857:
848:
844:
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836:
829:
827:
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823:
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701:on 2019-10-14
700:
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654:(4): 381–87.
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649:
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638:
634:
626:
622:
619:
616:
611:
602:
600:
596:
592:
587:
578:
576:
575:triglycerides
572:
568:
558:
555:
552:
548:
544:
539:
537:
533:
528:
527:remains low.
526:
522:
518:
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481:
478:
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468:
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417:
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409:
403:
396:
392:
388:
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382:
378:
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370:
369:triglycerides
366:
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315:
312:
309:
305:
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289:
286:
283:
280:
279:
278:
272:
269:
267:Frothy stools
266:
263:
260:
257:
254:
253:
252:
239:
237:
234:It is a rare
232:
230:
226:
222:
218:
214:
210:
206:
202:
198:
188:
182:
181:Endocrinology
179:
177:
173:
169:
168:H&E stain
165:
162:
158:
155:with a clear
154:
150:
146:
142:
137:
133:
129:
124:
118:
110:
107:
99:
88:
85:
81:
78:
74:
71:
67:
64:
60:
57: –
56:
52:
51:Find sources:
45:
41:
35:
34:
29:This article
27:
23:
18:
17:
1942:
1836:dyslipidemia
1828:Inborn error
1778:
1767:
1756:
1732:
1721:
1710:
1695:
1680:
1651:
1630:
1625:
1612:
1607:
1570:
1566:
1556:
1519:
1515:
1505:
1492:
1487:
1450:
1446:
1436:
1414:(7): 865–9.
1411:
1407:
1401:
1384:
1380:
1374:
1362:. Retrieved
1350:
1340:
1307:
1303:
1297:
1286:. Retrieved
1282:
1273:
1241:(7): 751–9.
1238:
1234:
1199:(1): 28–34.
1196:
1192:
1185:
1148:
1144:
1134:
1097:
1093:
1083:
1048:
1028:. Retrieved
1023:
968:
964:
954:
943:. Retrieved
904:
900:
874:
870:
839:Gene Reviews
838:
805:. Retrieved
800:
758:(4): 453–7.
755:
751:
744:
733:. Retrieved
728:
703:. Retrieved
699:the original
694:
651:
647:
637:
623:
620:
614:
612:
608:
588:
584:
564:
556:
540:
529:
521:chylomicrons
517:Acanthocytes
515:
511:
503:
487:
479:
466:
464:
451:
445:
404:
400:
359:, which are
357:lipoproteins
346:
276:
250:
242:Presentation
233:
221:chylomicrons
212:
208:
204:
200:
196:
195:
117:
102:
96:January 2020
93:
83:
76:
69:
62:
50:
38:Please help
33:verification
30:
1991:Lipomatosis
1758:MedlinePlus
1632:NCT05208879
1614:NCT02435940
1494:NCT00004574
1283:Mayo Clinic
801:MedlinePlus
536:chylomicron
532:steatorrhea
440:inheritance
416:steatorrhea
349:cholesterol
262:Steatorrhea
153:enterocytes
131:Other names
2021:Categories
1734:DiseasesDB
1387:(1): 119.
1351:StatPearls
1310:(2): 237.
1288:2019-11-06
1030:2008-02-24
945:2024-04-22
735:2018-04-18
705:2019-11-06
629:References
298:dysarthria
238:disorder.
149:Micrograph
66:newspapers
1769:eMedicine
1453:(1): 19.
1151:(1): 54.
807:April 22,
581:Prognosis
567:vitamin E
561:Treatment
508:Diagnosis
499:pes cavus
484:Mechanism
475:recessive
472:autosomal
385:vitamin K
381:vitamin E
377:vitamin D
373:vitamin A
361:molecules
176:Specialty
157:cytoplasm
1780:Orphanet
1774:med/1117
1599:30021760
1548:30021760
1479:18611256
1393:21534356
1364:29 April
1359:30020727
1332:28481550
1324:15765527
1265:28693034
1257:21394827
1213:23043934
1177:23556456
1126:22353470
1075:21827896
921:20626336
883:20953537
847:30358967
772:17275380
670:15411425
551:vacuoles
491:lordosis
430:Genetics
365:proteins
353:vitamins
343:Features
304:Lordosis
247:Symptoms
161:Duodenal
151:showing
1728:D000012
1590:6121919
1539:6121919
1470:2467409
1428:8340987
1168:3632489
1117:3337244
80:scholar
1763:001666
1717:200100
1597:
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1073:
1063:
995:874076
993:
986:372349
983:
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881:
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668:
591:ataxia
547:biopsy
525:plasma
450:gene (
424:retina
420:ataxia
383:, and
288:Ataxia
211:, and
183:
164:biopsy
82:
75:
68:
61:
53:
1984:Other
1706:272.5
1691:E78.6
1328:S2CID
1261:S2CID
648:Blood
497:, or
321:Signs
87:JSTOR
73:books
1830:of
1723:MeSH
1712:OMIM
1701:9-CM
1595:PMID
1544:PMID
1475:PMID
1424:PMID
1408:JAMA
1389:PMID
1366:2024
1355:PMID
1320:PMID
1253:PMID
1209:PMID
1193:Gene
1173:PMID
1122:PMID
1071:PMID
1061:ISBN
991:PMID
917:PMID
879:PMID
843:PMID
809:2024
768:PMID
666:PMID
593:and
467:MTTP
465:The
452:MTTP
225:VLDL
223:and
59:news
1697:ICD
1682:ICD
1658:NLM
1656:at
1585:PMC
1575:doi
1534:PMC
1524:doi
1465:PMC
1455:doi
1416:doi
1412:270
1312:doi
1243:doi
1201:doi
1197:512
1163:PMC
1153:doi
1112:PMC
1102:doi
1053:doi
981:PMC
973:doi
909:doi
760:doi
656:doi
462:).
42:by
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