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Paucity of peroxisomes

MedGen UID:
1841818
•Concept ID:
C5826474
•
Finding
HPO: HP:0034554

Definition

Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPaucity of peroxisomes

Professional guidelines

PubMed

Clinical classification and treatment of congenital and acquired lipodystrophy.
Chan JL, Oral EA
Endocr Pract 2010 Mar-Apr;16(2):310-23. doi: 10.4158/EP09154.RA. PMID: 20061300

Recent clinical studies

Etiology

Does Thiazolidinedione therapy exacerbate fluid retention in congestive heart failure?
Goltsman I, Khoury EE, Winaver J, Abassi Z
Pharmacol Ther 2016 Dec;168:75-97. Epub 2016 Sep 4 doi: 10.1016/j.pharmthera.2016.09.007. PMID: 27598860
Research resource: Diagnostic and therapeutic potential of nuclear receptor expression in lung cancer.
Jeong Y, Xie Y, Lee W, Bookout AL, Girard L, Raso G, Behrens C, Wistuba II, Gadzar AF, Minna JD, Mangelsdorf DJ
Mol Endocrinol 2012 Aug;26(8):1443-54. Epub 2012 Jun 14 doi: 10.1210/me.2011-1382. PMID: 22700587Free PMC Article
Identification of a novel PEX14 mutation in Zellweger syndrome.
Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D
J Med Genet 2008 Jun;45(6):376-83. Epub 2008 Feb 19 doi: 10.1136/jmg.2007.056697. PMID: 18285423
Utilization of juvenile animal studies to determine the human effects and risks of environmental toxicants during postnatal developmental stages.
Brent RL
Birth Defects Res B Dev Reprod Toxicol 2004 Oct;71(5):303-20. doi: 10.1002/bdrb.20020. PMID: 15505806
Utilization of animal studies to determine the effects and human risks of environmental toxicants (drugs, chemicals, and physical agents).
Brent RL
Pediatrics 2004 Apr;113(4 Suppl):984-95. PMID: 15060191

Diagnosis

Supraclavicular brown adipocytes originate from Tbx1+ myoprogenitors.
Huang Z, Gu C, Zhang Z, Arianti R, Swaminathan A, Tran K, Battist A, Kristóf E, Ruan HB
PLoS Biol 2023 Dec;21(12):e3002413. Epub 2023 Dec 4 doi: 10.1371/journal.pbio.3002413. PMID: 38048357Free PMC Article
Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy.
Jafarpour S, Khoshnood M, Santoro JD
Neurology 2022 Aug 23;99(8):341-346. Epub 2022 Jun 17 doi: 10.1212/WNL.0000000000200935. PMID: 35715200
Utilization of juvenile animal studies to determine the human effects and risks of environmental toxicants during postnatal developmental stages.
Brent RL
Birth Defects Res B Dev Reprod Toxicol 2004 Oct;71(5):303-20. doi: 10.1002/bdrb.20020. PMID: 15505806
Utilization of animal studies to determine the effects and human risks of environmental toxicants (drugs, chemicals, and physical agents).
Brent RL
Pediatrics 2004 Apr;113(4 Suppl):984-95. PMID: 15060191
Paucity of interlobular bile ducts.
Hadchouel M
Semin Diagn Pathol 1992 Feb;9(1):24-30. PMID: 1561486

Therapy

Saroglitazar improves nonalcoholic fatty liver disease and metabolic health in liver transplant recipients.
Siddiqui MS, Parmar D, Shaikh F, Forsgren M, Patel S, Bui AT, Boyett S, Patel V, Sanyal AJ
Liver Transpl 2023 Sep 1;29(9):979-986. Epub 2023 Feb 28 doi: 10.1097/LVT.0000000000000110. PMID: 36847136
Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy.
Jafarpour S, Khoshnood M, Santoro JD
Neurology 2022 Aug 23;99(8):341-346. Epub 2022 Jun 17 doi: 10.1212/WNL.0000000000200935. PMID: 35715200
Does Thiazolidinedione therapy exacerbate fluid retention in congestive heart failure?
Goltsman I, Khoury EE, Winaver J, Abassi Z
Pharmacol Ther 2016 Dec;168:75-97. Epub 2016 Sep 4 doi: 10.1016/j.pharmthera.2016.09.007. PMID: 27598860
The enteric bacterial metabolite propionic acid alters brain and plasma phospholipid molecular species: further development of a rodent model of autism spectrum disorders.
Thomas RH, Meeking MM, Mepham JR, Tichenoff L, Possmayer F, Liu S, MacFabe DF
J Neuroinflammation 2012 Jul 2;9:153. doi: 10.1186/1742-2094-9-153. PMID: 22747852Free PMC Article
Atherosclerotic plaque rupture: emerging insights and opportunities.
Plutzky J
Am J Cardiol 1999 Jul 8;84(1A):15J-20J. doi: 10.1016/s0002-9149(99)00352-5. PMID: 10418853

Prognosis

Saroglitazar improves nonalcoholic fatty liver disease and metabolic health in liver transplant recipients.
Siddiqui MS, Parmar D, Shaikh F, Forsgren M, Patel S, Bui AT, Boyett S, Patel V, Sanyal AJ
Liver Transpl 2023 Sep 1;29(9):979-986. Epub 2023 Feb 28 doi: 10.1097/LVT.0000000000000110. PMID: 36847136
Sleeping Beauty screen reveals Pparg activation in metastatic prostate cancer.
Ahmad I, Mui E, Galbraith L, Patel R, Tan EH, Salji M, Rust AG, Repiscak P, Hedley A, Markert E, Loveridge C, van der Weyden L, Edwards J, Sansom OJ, Adams DJ, Leung HY
Proc Natl Acad Sci U S A 2016 Jul 19;113(29):8290-5. Epub 2016 Jun 29 doi: 10.1073/pnas.1601571113. PMID: 27357679Free PMC Article
Research resource: Diagnostic and therapeutic potential of nuclear receptor expression in lung cancer.
Jeong Y, Xie Y, Lee W, Bookout AL, Girard L, Raso G, Behrens C, Wistuba II, Gadzar AF, Minna JD, Mangelsdorf DJ
Mol Endocrinol 2012 Aug;26(8):1443-54. Epub 2012 Jun 14 doi: 10.1210/me.2011-1382. PMID: 22700587Free PMC Article
Utilization of juvenile animal studies to determine the human effects and risks of environmental toxicants during postnatal developmental stages.
Brent RL
Birth Defects Res B Dev Reprod Toxicol 2004 Oct;71(5):303-20. doi: 10.1002/bdrb.20020. PMID: 15505806
Utilization of animal studies to determine the effects and human risks of environmental toxicants (drugs, chemicals, and physical agents).
Brent RL
Pediatrics 2004 Apr;113(4 Suppl):984-95. PMID: 15060191

Clinical prediction guides

Supraclavicular brown adipocytes originate from Tbx1+ myoprogenitors.
Huang Z, Gu C, Zhang Z, Arianti R, Swaminathan A, Tran K, Battist A, Kristóf E, Ruan HB
PLoS Biol 2023 Dec;21(12):e3002413. Epub 2023 Dec 4 doi: 10.1371/journal.pbio.3002413. PMID: 38048357Free PMC Article
Saroglitazar improves nonalcoholic fatty liver disease and metabolic health in liver transplant recipients.
Siddiqui MS, Parmar D, Shaikh F, Forsgren M, Patel S, Bui AT, Boyett S, Patel V, Sanyal AJ
Liver Transpl 2023 Sep 1;29(9):979-986. Epub 2023 Feb 28 doi: 10.1097/LVT.0000000000000110. PMID: 36847136
Sleeping Beauty screen reveals Pparg activation in metastatic prostate cancer.
Ahmad I, Mui E, Galbraith L, Patel R, Tan EH, Salji M, Rust AG, Repiscak P, Hedley A, Markert E, Loveridge C, van der Weyden L, Edwards J, Sansom OJ, Adams DJ, Leung HY
Proc Natl Acad Sci U S A 2016 Jul 19;113(29):8290-5. Epub 2016 Jun 29 doi: 10.1073/pnas.1601571113. PMID: 27357679Free PMC Article
Utilization of juvenile animal studies to determine the human effects and risks of environmental toxicants during postnatal developmental stages.
Brent RL
Birth Defects Res B Dev Reprod Toxicol 2004 Oct;71(5):303-20. doi: 10.1002/bdrb.20020. PMID: 15505806
Utilization of animal studies to determine the effects and human risks of environmental toxicants (drugs, chemicals, and physical agents).
Brent RL
Pediatrics 2004 Apr;113(4 Suppl):984-95. PMID: 15060191

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