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Apolipoprotein B deficiency

MedGen UID:
352827
Concept ID:
C1704299
Disease or Syndrome
Synonyms: Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type; Apolipoprotein B Deficiencies; Apolipoprotein B Deficiency; Apolipoprotein B Deficiency Disease; Hypobetalipoproteinemia, Familial, Apo B; Hypobetalipoproteinemia, Familial, Apolipoprotein B
SNOMED CT: Apolipoprotein B deficiency (190787008)

Definition

An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVApolipoprotein B deficiency

Professional guidelines

PubMed

Bredefeld C, Peretti N, Hussain MM; Medical Advisory Panel
Gastroenterology 2021 May;160(6):1912-1916. Epub 2020 Dec 1 doi: 10.1053/j.gastro.2020.11.040. PMID: 33275938

Recent clinical studies

Diagnosis

Paquette M, Bernard S, Baass A
Curr Opin Lipidol 2022 Aug 1;33(4):227-230. doi: 10.1097/MOL.0000000000000831. PMID: 35942808
Artekar TM, Desai HG
Trop Gastroenterol 2003 Jan-Mar;24(1):35-6. PMID: 12974215
Shah SS, Desai HG
J Assoc Physicians India 2001 Feb;49:284-5. PMID: 11225149
Mehta NN, Desai HG
Indian J Gastroenterol 1997 Oct;16(4):158-9. PMID: 9357195

Clinical prediction guides

Hamilton RL, Wong JS, Cham CM, Nielsen LB, Young SG
J Lipid Res 1998 Aug;39(8):1543-57. PMID: 9717714

Supplemental Content

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    Practice guidelines

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