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Diffuse hepatic steatosis

MedGen UID:
341511
Concept ID:
C1849686
Finding
Synonym: Hepatic steatosis, diffuse
 
HPO: HP:0006555

Definition

A diffuse form of hepatic steatosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse hepatic steatosis

Conditions with this feature

Acyl-CoA oxidase deficiency
MedGen UID:
376636
Concept ID:
C1849678
Disease or Syndrome
Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995).

Professional guidelines

PubMed

Draijer L, Benninga M, Koot B
Expert Rev Gastroenterol Hepatol 2019 May;13(5):447-461. Epub 2019 Apr 4 doi: 10.1080/17474124.2019.1595589. PMID: 30875479
Leoni S, Tovoli F, Napoli L, Serio I, Ferri S, Bolondi L
World J Gastroenterol 2018 Aug 14;24(30):3361-3373. doi: 10.3748/wjg.v24.i30.3361. PMID: 30122876Free PMC Article
Pandey P, Pandey A, Dillhoff M, Schmidt C, Kamel IR, Pawlik TM
J Gastrointest Surg 2018 Feb;22(2):344-360. Epub 2017 Sep 18 doi: 10.1007/s11605-017-3562-3. PMID: 28924922

Recent clinical studies

Etiology

Liu L, Geng Y, Xiong C
Ann Med 2023;55(2):2255825. doi: 10.1080/07853890.2023.2255825. PMID: 37708866Free PMC Article
Kawano Y, Tanabe M, Kameda F, Higashi M, Ihara K, Tanabe M, Inoue A, Kobayashi T, Ueda T, Ito K
Eur J Radiol 2023 Mar;160:110688. Epub 2023 Jan 5 doi: 10.1016/j.ejrad.2023.110688. PMID: 36630843
Bural GG, Torigian DA, Burke A, Houseni M, Alkhawaldeh K, Cucchiara A, Basu S, Alavi A
Mol Imaging Biol 2010 Jun;12(3):233-9. Epub 2009 Oct 6 doi: 10.1007/s11307-009-0258-4. PMID: 19806406

Diagnosis

Kamath S, Chavez AO, Gastaldelli A, Casiraghi F, Halff GA, Abrahamian GA, Davalli AM, Bastarrachea RA, Comuzzie AG, Guardado-Mendoza R, Jimenez-Ceja LM, Mattern V, Paez AM, Ricotti A, Tejero ME, Higgins PB, Rodriguez-Sanchez IP, Tripathy D, DeFronzo RA, Dick EJ Jr, Cline GW, Folli F
PLoS One 2011;6(11):e27617. Epub 2011 Nov 18 doi: 10.1371/journal.pone.0027617. PMID: 22125617Free PMC Article
Bural GG, Torigian DA, Burke A, Houseni M, Alkhawaldeh K, Cucchiara A, Basu S, Alavi A
Mol Imaging Biol 2010 Jun;12(3):233-9. Epub 2009 Oct 6 doi: 10.1007/s11307-009-0258-4. PMID: 19806406
Siegelman ES, Rosen MA
Semin Liver Dis 2001;21(1):71-80. doi: 10.1055/s-2001-12930. PMID: 11296698
Siegelman ES
Magn Reson Imaging Clin N Am 1997 May;5(2):347-65. PMID: 9113679
Russo P, Doyon J, Sonsino E, Ogier H, Saudubray JM
Hum Pathol 1992 May;23(5):504-12. doi: 10.1016/0046-8177(92)90127-o. PMID: 1568746

Therapy

Freitas M, Magalhães J, Marinho C, Cotter J
BMJ Case Rep 2020 May 5;13(5) doi: 10.1136/bcr-2020-234491. PMID: 32376662Free PMC Article

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