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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]

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
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
Peroxisomal disorders: a review.
Wanders RJ, Schutgens RB, Barth PG
J Neuropathol Exp Neurol 1995 Sep;54(5):726-39. doi: 10.1097/00005072-199509000-00016. PMID: 7545216
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

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
Peroxisomal disorders: a review.
Wanders RJ, Schutgens RB, Barth PG
J Neuropathol Exp Neurol 1995 Sep;54(5):726-39. doi: 10.1097/00005072-199509000-00016. PMID: 7545216
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
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV
Br J Clin Pharmacol 2016 Jun;81(6):1058-66. Epub 2016 Apr 3 doi: 10.1111/bcp.12897. PMID: 26836218Free PMC Article
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

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