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Peroxisome biogenesis disorder(PBD, ZSS)

MedGen UID:
330407
Concept ID:
C1832200
Disease or Syndrome
Synonyms: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL; ALD: Adrenoleukodystrophy, X-Linked; INFANTILE PHYTANIC ACID STORAGE DISEASE; PBD, ZSS; PEROXISOME BIOGENESIS DISORDER (NALD/IRD); PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE); Peroxisome biogenesis disorders, Zellweger syndrome spectrum
SNOMED CT: Peroxisome biogenesis disorder spectrum (742876007); Peroxisome biogenesis disorder (742876007); PBD-ZSS - Peroxisome biogenesis disorder Zellweger syndrome spectrum (742876007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): PEX12 (17q12); PEX16 (11p11.2); PEX6 (6p21.1)
 
Monarch Initiative: MONDO:0019234
OMIM® Phenotypic series: PS214100
Orphanet: ORPHA79189

Definition

Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth. [from GeneReviews]

Professional guidelines

PubMed

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
Anderson JN, Ammous Z, Eroglu Y, Hernandez E, Heubi J, Himes R, Palle S
Orphanet J Rare Dis 2021 Sep 14;16(1):388. doi: 10.1186/s13023-021-01940-z. PMID: 34521419Free PMC Article
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL
JAMA Netw Open 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. PMID: 32003821Free PMC Article

Recent clinical studies

Etiology

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
Anderson JN, Ammous Z, Eroglu Y, Hernandez E, Heubi J, Himes R, Palle S
Orphanet J Rare Dis 2021 Sep 14;16(1):388. doi: 10.1186/s13023-021-01940-z. PMID: 34521419Free PMC Article
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL
JAMA Netw Open 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. PMID: 32003821Free PMC Article
Nazarko TY
Autophagy 2017 May 4;13(5):991-994. Epub 2017 Feb 28 doi: 10.1080/15548627.2017.1291480. PMID: 28318378Free PMC Article
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. PMID: 28129423Free PMC Article

Diagnosis

Bose M, Yergeau C, D'Souza Y, Cuthbertson DD, Lopez MJ, Smolen AK, Braverman NE
Cells 2022 Jun 10;11(12) doi: 10.3390/cells11121891. PMID: 35741019Free PMC Article
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
Schilff M, Sargsyan Y, Hofhuis J, Thoms S
Biomolecules 2021 Jul 9;11(7) doi: 10.3390/biom11071006. PMID: 34356630Free PMC Article
Zaabi NA, Kendi A, Al-Jasmi F, Takashima S, Shimozawa N, Al-Dirbashi OY
Brain Dev 2019 Jan;41(1):57-65. Epub 2018 Aug 2 doi: 10.1016/j.braindev.2018.07.015. PMID: 30078639
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. PMID: 28129423Free PMC Article

Therapy

Cheung A, Argyriou C, Yergeau C, D'Souza Y, Riou É, Lévesque S, Raymond G, Daba M, Rtskhiladze I, Tkemaladze T, Adang L, La Piana R, Bernard G, Braverman N
Neurogenetics 2022 Apr;23(2):115-127. Epub 2022 Feb 2 doi: 10.1007/s10048-022-00684-7. PMID: 35106698
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
MacLean GE, Argyriou C, Di Pietro E, Sun X, Birjandian S, Saberian P, Hacia JG, Braverman NE
J Cell Biochem 2019 Mar;120(3):3243-3258. Epub 2018 Oct 26 doi: 10.1002/jcb.27591. PMID: 30362618
Sorlin A, Briand G, Cheillan D, Wiedemann A, Montaut-Verient B, Schmitt E, Feillet F
Neuropediatrics 2016 Jun;47(3):179-81. Epub 2016 Mar 4 doi: 10.1055/s-0036-1578798. PMID: 26947510
Gootjes J, Skovby F, Christensen E, Wanders RJ, Ferdinandusse S
Neurology 2004 Jun 8;62(11):2077-81. doi: 10.1212/01.wnl.0000127576.26352.d1. PMID: 15184617

Prognosis

Bose M, Yergeau C, D'Souza Y, Cuthbertson DD, Lopez MJ, Smolen AK, Braverman NE
Cells 2022 Jun 10;11(12) doi: 10.3390/cells11121891. PMID: 35741019Free PMC Article
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL
JAMA Netw Open 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. PMID: 32003821Free PMC Article
Zaabi NA, Kendi A, Al-Jasmi F, Takashima S, Shimozawa N, Al-Dirbashi OY
Brain Dev 2019 Jan;41(1):57-65. Epub 2018 Aug 2 doi: 10.1016/j.braindev.2018.07.015. PMID: 30078639
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. PMID: 28129423Free PMC Article
Imamura A, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Fujiki Y, Orii T, Osumi T, Kondo N
Brain Dev 2000 Jan;22(1):8-12. doi: 10.1016/s0387-7604(99)00072-8. PMID: 10761827

Clinical prediction guides

Khoddam S, Kamal N, Shiri A, Jafari Khamirani H, Manoochehri J, Dianatpour M, Tabei SMB, Dastgheib SA
Eur J Med Genet 2024 Apr;68:104928. Epub 2024 Feb 28 doi: 10.1016/j.ejmg.2024.104928. PMID: 38423277
Bose M, Yergeau C, D'Souza Y, Cuthbertson DD, Lopez MJ, Smolen AK, Braverman NE
Cells 2022 Jun 10;11(12) doi: 10.3390/cells11121891. PMID: 35741019Free PMC Article
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL
JAMA Netw Open 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. PMID: 32003821Free PMC Article
Klouwer FCC, Meester-Delver A, Vaz FM, Waterham HR, Hennekam RCM, Poll-The BT
Clin Genet 2018 Mar;93(3):613-621. Epub 2017 Dec 1 doi: 10.1111/cge.13130. PMID: 28857144
Nasrallah F, Zidi W, Feki M, Kacem S, Tebib N, Kaabachi N
Pediatr Neonatol 2017 Dec;58(6):484-489. Epub 2017 Feb 17 doi: 10.1016/j.pedneo.2016.08.011. PMID: 28330580

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