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Abetalipoproteinaemia(ABL)

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
Synonyms: Abetalipoproteinemia; Abetalipoproteinemia neuropathy; ABL; Acanthocytosis; Apolipoprotein B deficiency; Bassen Kornzweig syndrome; Betalipoprotein deficiency disease; Congenital betalipoprotein deficiency syndrome; Low-density beta lipoprotein deficiency; Microsomal triglyceride transfer protein deficiency disease; Microsomal-triglyceride transfer protein deficiency; MTP DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Abetalipoproteinemia (190787008); ABL - Abetalipoproteinemia (190787008)
 
Gene (location): MTTP (4q23)
OMIM®: 200100
HPO: HP:0008181
Orphanet: ORPHA14

Definition

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from OMIM]

Additional description

From GHR
Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Disturbances in nerve function may cause affected people to eventually develop poor muscle coordination and difficulty with balance and movement (ataxia). Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which progressive degeneration of the light-sensitive layer (retina) at the back of the eye can cause vision loss. 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 a deficiency of vitamin E.  http://ghr.nlm.nih.gov/condition/abetalipoproteinemia

Clinical features

Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are. -Macular degeneration - a disease that destroys your sharp, central vision. -Diabetic eye disease. -Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye. -Retinoblastoma - cancer of the retina. It is most common in young children. -Macular pucker - scar tissue on the macula. -Macular hole - a small break in the macula that usually happens to people over 60. -Floaters - cobwebs or specks in your field of vision. NIH: National Eye Institute.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Pigmentary retinal degeneration
MedGen UID:
331638
Concept ID:
C1833999
Finding
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Acanthocytosis
MedGen UID:
195801
Concept ID:
C0687751
Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Movement disorder
MedGen UID:
10113
Concept ID:
C0026650
Disease or Syndrome
Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. . Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.
CNS demyelination
MedGen UID:
137898
Concept ID:
C0338474
Disease or Syndrome
A loss of myelin from nerve fibers in the central nervous system.
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Peripheral demyelination
MedGen UID:
451074
Concept ID:
C0878575
Pathologic Function
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Decreased to absent deep tendon reflexes
MedGen UID:
356648
Concept ID:
C1866934
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Fat malabsorption
MedGen UID:
108215
Concept ID:
C0554103
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Abetalipoproteinaemia
MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbetalipoproteinaemia
Follow this link to review classifications for Abetalipoproteinaemia in Orphanet.

Conditions with this feature

Abetalipoproteinaemia
MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

Professional guidelines

PubMed

Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. [Epub ahead of print] PMID: 20050888

External

Clinical utility gene card for: Abetalipoproteinaemia

Recent clinical studies

Etiology

Hooper AJ, van Bockxmeer FM, Burnett JR
Crit Rev Clin Lab Sci 2005;42(5-6):515-45. doi: 10.1080/10408360500295113 . PMID: 16390683
Chowers I, Banin E, Merin S, Cooper M, Granot E
Eye (Lond) 2001 Aug;15(Pt 4):525-30. doi: 10.1038/eye.2001.167. PMID: 11767031
Croft KD, Beilin LJ
Thromb Res 1993 Feb 15;69(4):333-42. PMID: 8385810
Reichl D, Myant NB, Lloyd JK
Biochim Biophys Acta 1978 Jul 25;530(1):124-31. PMID: 210827
Muller DP, Lloyd JK, Bird AC
Arch Dis Child 1977 Mar;52(3):209-14. PMID: 848999Free PMC Article

Diagnosis

Burnett JR, Bell DA, Hooper AJ, Hegele RA
Eur J Hum Genet 2015 Jun;23(6) Epub 2014 Oct 22 doi: 10.1038/ejhg.2014.224. [Epub ahead of print] PMID: 25335492Free PMC Article
Burnett JR, Bell DA, Hooper AJ, Hegele RA
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Feb 29 doi: 10.1038/ejhg.2012.30. [Epub ahead of print] PMID: 22378282Free PMC Article
Sakamoto O, Abukawa D, Takeyama J, Arai N, Nagano M, Hattori H, Egashira T, Sakai N, Yamashita S, Iinuma K, Ohura T
Eur J Pediatr 2006 Jan;165(1):68-70. Epub 2005 Sep 6 doi: 10.1007/s00431-005-1751-7. [Epub ahead of print] PMID: 16143868
Heath KE, Luong LA, Leonard JV, Chester A, Shoulders CC, Scott J, Middleton-Price HR, Humphries SE, Talmud PJ
Prenat Diagn 1997 Dec;17(12):1181-6. PMID: 9467817
Kaciński M, Kaczmarski F, Miezyński W, Grzenda-Adamek Z, Miszczuk-Jamska B, Stopyrowa J, Sznajd J
Eur J Pediatr 1991 Apr;150(6):429-32. PMID: 2040353

Therapy

MacGilchrist AJ, Mills PR, Noble M, Foulds WS, Simpson JA, Watkinson G
J Inherit Metab Dis 1988;11(2):184-90. PMID: 3139930
Fagan ER, Taylor MJ
Can J Neurol Sci 1987 Nov;14(4):617-21. PMID: 3690434
Runge P, Muller DP, McAllister J, Calver D, Lloyd JK, Taylor D
Br J Ophthalmol 1986 Mar;70(3):166-73. PMID: 3954973Free PMC Article
Muller DP, Lloyd JK, Wolff OH
Ciba Found Symp 1983;101:106-21. PMID: 6557902
Bishara S, Merin S, Cooper M, Azizi E, Delpre G, Deckelbaum RJ
Br J Ophthalmol 1982 Dec;66(12):767-70. PMID: 7171526Free PMC Article

Prognosis

Chowers I, Banin E, Merin S, Cooper M, Granot E
Eye (Lond) 2001 Aug;15(Pt 4):525-30. doi: 10.1038/eye.2001.167. PMID: 11767031
Muller DP, Lloyd JK, Bird AC
Arch Dis Child 1977 Mar;52(3):209-14. PMID: 848999Free PMC Article

Clinical prediction guides

Pappu AS, Illingworth DR
Eur J Clin Invest 1994 Oct;24(10):698-702. PMID: 7851471
Runge P, Muller DP, McAllister J, Calver D, Lloyd JK, Taylor D
Br J Ophthalmol 1986 Mar;70(3):166-73. PMID: 3954973Free PMC Article
Muller DP, Lloyd JK, Wolff OH
Lancet 1983 Jan 29;1(8318):225-8. PMID: 6130255
Reichl D, Myant NB, Lloyd JK
Biochim Biophys Acta 1978 Jul 25;530(1):124-31. PMID: 210827

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