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Abetalipoproteinaemia(ABL)

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
Synonyms: Abetalipoproteinemia; Abetalipoproteinemia neuropathy; ABL; 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
SNOMED CT: Abetalipoproteinemia (190787008); ABL - Abetalipoproteinemia (190787008); Bassen-Kornzweig disease (190787008); Homozygous familial hypobetalipoproteinemia (190787008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): MTTP (4q23)
 
HPO: HP:0008181
Monarch Initiative: MONDO:0008692
OMIM®: 200100
Orphanet: ORPHA14

Disease characteristics

Excerpted from the GeneReview: Abetalipoproteinemia
Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life. [from GeneReviews]
Authors:
John R Burnett  |  Amanda J Hooper  |  Robert A Hegele   view full author information

Additional description

From OMIM
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).  http://www.omim.org/entry/200100

Clinical features

From HPO
Fat malabsorption
MedGen UID:
108215
Concept ID:
C0554103
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
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- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
CNS demyelination
MedGen UID:
137898
Concept ID:
C0338474
Disease or Syndrome
A loss of myelin from nerve fibers in the central nervous system.
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.
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.
Abetalipoproteinaemia
MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.

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 typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.

Professional guidelines

PubMed

Burnett JR, Bell DA, Hooper AJ, Hegele RA
Eur J Hum Genet 2015 Jun;23(6):890-. Epub 2014 Oct 22 doi: 10.1038/ejhg.2014.224. 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. PMID: 22378282Free PMC Article
Muller DP, Lloyd JK, Wolff OH
J Inherit Metab Dis 1985;8 Suppl 1:88-92. doi: 10.1007/BF01800666. PMID: 3930848

Curated

Clinical utility gene card for: Abetalipoproteinaemia

Recent clinical studies

Etiology

Arias M
Neurologia (Engl Ed) 2019 May;34(4):248-258. Epub 2016 Jul 25 doi: 10.1016/j.nrl.2016.06.006. PMID: 27460185
Olsson AG, Angelin B, Assmann G, Binder CJ, Björkhem I, Cedazo-Minguez A, Cohen J, von Eckardstein A, Farinaro E, Müller-Wieland D, Parhofer KG, Parini P, Rosenson RS, Starup-Linde J, Tikkanen MJ, Yvan-Charvet L
J Intern Med 2017 Jun;281(6):534-553. doi: 10.1111/joim.12614. PMID: 28295777
Hooper AJ, van Bockxmeer FM, Burnett JR
Crit Rev Clin Lab Sci 2005;42(5-6):515-45. doi: 10.1080/10408360500295113. PMID: 16390683
Stevenson VL, Hardie RJ
J Neurol 2001 Feb;248(2):87-94. doi: 10.1007/s004150170241. PMID: 11284140
Hardie RJ
Q J Med 1989 Apr;71(264):291-306. PMID: 2687930

Diagnosis

Arias M
Neurologia (Engl Ed) 2019 May;34(4):248-258. Epub 2016 Jul 25 doi: 10.1016/j.nrl.2016.06.006. PMID: 27460185
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. PMID: 22378282Free PMC Article
Poll-The BT, Billette de Villemeur T, Abitbol M, Dufier JL, Saudubray JM
Eur J Pediatr 1992 Jan;151(1):2-11. doi: 10.1007/BF02073880. PMID: 1728538
Critchley EM, Nicholson JT, Betts JJ, Weatherall DJ
Postgrad Med J 1970 Dec;46(542):698-701. doi: 10.1136/pgmj.46.542.698. PMID: 5492702Free PMC Article
Wolff O
Dev Med Child Neurol 1965 Aug;7(4):430-2. doi: 10.1111/j.1469-8749.1965.tb08237.x. PMID: 5862046

Therapy

Olsson AG, Angelin B, Assmann G, Binder CJ, Björkhem I, Cedazo-Minguez A, Cohen J, von Eckardstein A, Farinaro E, Müller-Wieland D, Parhofer KG, Parini P, Rosenson RS, Starup-Linde J, Tikkanen MJ, Yvan-Charvet L
J Intern Med 2017 Jun;281(6):534-553. doi: 10.1111/joim.12614. PMID: 28295777
Muller DP
Postgrad Med J 1986 Feb;62(724):107-12. doi: 10.1136/pgmj.62.724.107. PMID: 3540925Free PMC Article
Muller DP, Lloyd JK, Wolff OH
J Inherit Metab Dis 1985;8 Suppl 1:88-92. doi: 10.1007/BF01800666. PMID: 3930848
Bishara S, Merin S, Cooper M, Azizi E, Delpre G, Deckelbaum RJ
Br J Ophthalmol 1982 Dec;66(12):767-70. doi: 10.1136/bjo.66.12.767. PMID: 7171526Free PMC Article
Gracey M, Burke V, Anderson CM
Arch Dis Child 1970 Aug;45(242):445-52. doi: 10.1136/adc.45.242.445. PMID: 4918706Free PMC Article

Prognosis

Soylu Ustkoyuncu P, Gokay S, Eren E, Dogan D, Yildiz G, Yilmaz A, Turkan Mutlu F
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):427-431. Epub 2020 Jan 9 doi: 10.4274/jcrpe.galenos.2019.2019.0144. PMID: 31914726Free PMC Article
Arias M
Neurologia (Engl Ed) 2019 May;34(4):248-258. Epub 2016 Jul 25 doi: 10.1016/j.nrl.2016.06.006. PMID: 27460185
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. doi: 10.1136/adc.52.3.209. PMID: 848999Free PMC Article

Clinical prediction guides

Pappu AS, Illingworth DR
Eur J Clin Invest 1994 Oct;24(10):698-702. doi: 10.1111/j.1365-2362.1994.tb01063.x. PMID: 7851471
Runge P, Muller DP, McAllister J, Calver D, Lloyd JK, Taylor D
Br J Ophthalmol 1986 Mar;70(3):166-73. doi: 10.1136/bjo.70.3.166. PMID: 3954973Free PMC Article
Muller DP, Lloyd JK, Wolff OH
Lancet 1983 Jan 29;1(8318):225-8. doi: 10.1016/s0140-6736(83)92598-9. PMID: 6130255
Reichl D, Myant NB, Lloyd JK
Biochim Biophys Acta 1978 Jul 25;530(1):124-31. doi: 10.1016/0005-2760(78)90132-7. PMID: 210827

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