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Peroxisome Biogenesis Disorder 1B

MedGen UID:
1653860
•Concept ID:
C4723746
•
Disease or Syndrome

Definition

An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeroxisome Biogenesis Disorder 1B

Professional guidelines

PubMed

Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Mol Genet Metab 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926. PMID: 10527683
Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis.
Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M
Am J Ophthalmol 1989 Jun 15;107(6):624-31. doi: 10.1016/0002-9394(89)90259-6. PMID: 2658617
Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H
J Inherit Metab Dis 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. PMID: 2509803

Recent clinical studies

Etiology

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.
Braverman NE, D'Agostino MD, Maclean GE
Dev Disabil Res Rev 2013;17(3):187-96. doi: 10.1002/ddrr.1113. PMID: 23798008
Peroxisomal disorders.
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
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

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.
Braverman NE, D'Agostino MD, Maclean GE
Dev Disabil Res Rev 2013;17(3):187-96. doi: 10.1002/ddrr.1113. PMID: 23798008
Peroxisomal disorders.
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Peroxisome biogenesis disorders.
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
Biochim Biophys Acta 2006 Dec;1763(12):1733-48. Epub 2006 Sep 14 doi: 10.1016/j.bbamcr.2006.09.010. PMID: 17055079
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
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Therapy

Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.
Paker AM, Sunness JS, Brereton NH, Speedie LJ, Albanna L, Dharmaraj S, Moser AB, Jones RO, Raymond GV
Neurology 2010 Aug 31;75(9):826-30. doi: 10.1212/WNL.0b013e3181f07061. PMID: 20805528Free PMC Article
Therapeutic developments in peroxisome biogenesis disorders.
McGuinness MC, Wei H, Smith KD
Expert Opin Investig Drugs 2000 Sep;9(9):1985-92. doi: 10.1517/13543784.9.9.1985. PMID: 11060787
Plasma and red blood cell fatty acids in peroxisomal disorders.
Moser AB, Jones DS, Raymond GV, Moser HW
Neurochem Res 1999 Feb;24(2):187-97. doi: 10.1023/a:1022549618333. PMID: 9972864
A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients.
Moser AB, Borel J, Odone A, Naidu S, Cornblath D, Sanders DB, Moser HW
Ann Neurol 1987 Mar;21(3):240-9. doi: 10.1002/ana.410210305. PMID: 2440378
Phytol and peroxisome proliferation.
Van den Branden C, Vamecq J, Wybo I, Roels F
Pediatr Res 1986 May;20(5):411-5. doi: 10.1203/00006450-198605000-00007. PMID: 2423950

Prognosis

Child neurology: Zellweger syndrome.
Lee PR, Raymond GV
Neurology 2013 May 14;80(20):e207-10. doi: 10.1212/WNL.0b013e3182929f8e. PMID: 23671347Free PMC Article
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Mol Genet Metab 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926. PMID: 10527683
Dysmyelinating and demyelinating conditions in infancy.
Kolodny EH
Curr Opin Neurol Neurosurg 1993 Jun;6(3):379-86. PMID: 8507907
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Hepatocyte transplantation for liver-based metabolic disorders.
Dhawan A, Mitry RR, Hughes RD
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):431-5. doi: 10.1007/s10545-006-0245-8. PMID: 16763914
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
Biogenesis of peroxisomes in fetal liver.
Espeel M, Depreter M, Nardacci R, D'Herde K, Kerckaert I, Stefanini S, Roels F
Microsc Res Tech 1997 Dec 1;39(5):453-66. doi: 10.1002/(SICI)1097-0029(19971201)39:5<453::AID-JEMT8>3.0.CO;2-H. PMID: 9408912
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.
Roels F, Espeel M, De Craemer D
J Inherit Metab Dis 1991;14(6):853-75. doi: 10.1007/BF01800464. PMID: 1779645
Bile acids in peroxisomal disorders.
Van Eldere JR, Parmentier GG, Eyssen HJ, Wanders RJ, Schutgens RB, Vamecq J, Van Hoof F, Poll-The BT, Saudubray JM
Eur J Clin Invest 1987 Oct;17(5):386-90. doi: 10.1111/j.1365-2362.1987.tb01131.x. PMID: 2446876

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