U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Peroxisomal disorder

MedGen UID:
129185
•Concept ID:
C0282528
•
Disease or Syndrome
Synonyms: Peroxisomal Disorder; Peroxisomal Disorders
SNOMED CT: Disorder of peroxisomal function (238059005)
 
Monarch Initiative: MONDO:0019053
Orphanet: ORPHA68373

Definition

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Adrenoleukodystrophy in the era of newborn screening.
Eng L, Regelmann MO
Curr Opin Endocrinol Diabetes Obes 2020 Feb;27(1):47-55. doi: 10.1097/MED.0000000000000515. PMID: 31789721
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT
Orphanet J Rare Dis 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51. PMID: 22889154Free PMC Article

Recent clinical studies

Etiology

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites.
Wanders RJ, Ferdinandusse S
Curr Drug Metab 2012 Dec;13(10):1401-11. doi: 10.2174/138920012803762747. PMID: 22978395
The importance of ether-phospholipids: a view from the perspective of mouse models.
da Silva TF, Sousa VF, Malheiro AR, Brites P
Biochim Biophys Acta 2012 Sep;1822(9):1501-8. Epub 2012 May 31 doi: 10.1016/j.bbadis.2012.05.014. PMID: 22659211
The peroxisome and the eye.
Folz SJ, Trobe JD
Surv Ophthalmol 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. PMID: 1710072
Peroxisomal disorders: clinical characterization.
Monnens L, Heymans H
J Inherit Metab Dis 1987;10 Suppl 1:23-32. doi: 10.1007/BF01812844. PMID: 2446046

Diagnosis

Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.
Koto Y, Sakai N, Lee Y, Kakee N, Matsuda J, Tsuboi K, Shimozawa N, Okuyama T, Nakamura K, Narita A, Kobayashi H, Uehara R, Nakamura Y, Kato K, Eto Y
Mol Genet Metab 2021 Jul;133(3):277-288. Epub 2021 May 12 doi: 10.1016/j.ymgme.2021.05.004. PMID: 34090759
Adrenoleukodystrophy in the era of newborn screening.
Eng L, Regelmann MO
Curr Opin Endocrinol Diabetes Obes 2020 Feb;27(1):47-55. doi: 10.1097/MED.0000000000000515. PMID: 31789721
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT
Orphanet J Rare Dis 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51. PMID: 22889154Free PMC Article
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M
Semin Neurol 2012 Feb;32(1):42-50. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306385. PMID: 22422205
The adrenoleukodystrophies.
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE
Crit Rev Neurobiol 1987;3(1):29-88. PMID: 3552451

Therapy

Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
Enns GM, Ammous Z, Himes RW, Nogueira J, Palle S, Sullivan M, Ramirez C
Mol Genet Metab 2021 Nov;134(3):217-222. Epub 2021 Sep 27 doi: 10.1016/j.ymgme.2021.09.007. PMID: 34625341
Anesthesia in a child with suspected peroxisomal disorder.
Englbrecht JS, Maas M
Anaesthesist 2017 Dec;66(12):944-947. Epub 2017 Nov 8 doi: 10.1007/s00101-017-0379-0. PMID: 29119207
Side-effects and complications of laser treatment in diabetic retinal disease.
Deschler EK, Sun JK, Silva PS
Semin Ophthalmol 2014 Sep-Nov;29(5-6):290-300. doi: 10.3109/08820538.2014.959198. PMID: 25325854
Clinical profile of adrenoleukodysrophy.
Acharya SV, Gopal RA, Bandgar TR, Joshi SR, Menon PS, Shah NS
Indian J Pediatr 2009 Oct;76(10):1045-7. Epub 2009 Nov 12 doi: 10.1007/s12098-009-0220-0. PMID: 19907937
Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis.
Infante JP, Huszagh VA
Mol Genet Metab 2001 Jan;72(1):1-7. doi: 10.1006/mgme.2000.3101. PMID: 11161822

Prognosis

Systemic diseases associated with retinal dystrophies.
Werdich XQ, Place EM, Pierce EA
Semin Ophthalmol 2014 Sep-Nov;29(5-6):319-28. doi: 10.3109/08820538.2014.959202. PMID: 25325857
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT
Orphanet J Rare Dis 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51. PMID: 22889154Free PMC Article
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M
Semin Neurol 2012 Feb;32(1):42-50. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306385. PMID: 22422205
Transplant outcomes in leukodystrophies.
Orchard PJ, Tolar J
Semin Hematol 2010 Jan;47(1):70-8. doi: 10.1053/j.seminhematol.2009.10.006. PMID: 20109614
Clinical profile of adrenoleukodysrophy.
Acharya SV, Gopal RA, Bandgar TR, Joshi SR, Menon PS, Shah NS
Indian J Pediatr 2009 Oct;76(10):1045-7. Epub 2009 Nov 12 doi: 10.1007/s12098-009-0220-0. PMID: 19907937

Clinical prediction guides

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.
Zhu Z, Genchev GZ, Wang Y, Ji W, Zhang X, Lu H, Sriswasdi S, Tian G
Orphanet J Rare Dis 2023 May 2;18(1):102. doi: 10.1186/s13023-023-02673-x. PMID: 37189159Free PMC Article
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression.
Keller JL, Eloyan A, Raymond GV, Fatemi A, Zackowski KM
J Inherit Metab Dis 2022 Mar;45(2):308-317. Epub 2021 Dec 9 doi: 10.1002/jimd.12457. PMID: 34796974Free PMC Article
Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy.
Deon M, Marchetti DP, Donida B, Wajner M, Vargas C
Cell Mol Neurobiol 2016 May;36(4):497-512. Epub 2015 Jul 14 doi: 10.1007/s10571-015-0234-2. PMID: 26169524
Myelin peroxisomes - essential organelles for the maintenance of white matter in the nervous system.
Kassmann CM
Biochimie 2014 Mar;98:111-8. Epub 2013 Oct 9 doi: 10.1016/j.biochi.2013.09.020. PMID: 24120688
The adrenoleukodystrophies.
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE
Crit Rev Neurobiol 1987;3(1):29-88. PMID: 3552451

Recent systematic reviews

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen.
Regelmann MO, Kamboj MK, Miller BS, Nakamoto JM, Sarafoglou K, Shah S, Stanley TL, Marino R; Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee
J Clin Endocrinol Metab 2018 Nov 1;103(11):4324-4331. doi: 10.1210/jc.2018-00920. PMID: 30289543

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...