Neonatal adrenoleukodystrophy

Definition:

The neonatal form of adrenoleukodystrophy (NALD) and Infantile Refsum disease (IRD) are milder form of Zellweger syndrome spectrum (ZSS) disorders. They are caused by defects in one of PEX genes, which encode proteins involved in peroxisome assembly and proliferation. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment.

References:

[1]. Andrea Mignarri, et al. Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. JIMD Rep. 2012;6:43-6. [Content Brief]

[2]. C Maxit, et al. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. JIMD Rep. 2017;34:71-75. [Content Brief]

[3]. C Walter, et al. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Am J Hum Genet. 2001 Jul;69(1):35-48. [Content Brief]

[4]. Daan M van den Brink, et al. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet. 2003 Feb;72(2):471-7. [Content Brief]

[5]. G Dodt, et al. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet. 1995 Feb;9(2):115-25. [Content Brief]

[6]. Hans R Waterham, et al. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. [Content Brief]

[7]. Jeannette Gootjes, et al. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. Eur J Hum Genet. 2004 Feb;12(2):115-20. [Content Brief]

[8]. Kim D Falkenberg, et al. Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. Am J Hum Genet. 2017 Dec 7;101(6):965-976. [Content Brief]

[9]. Maria Blomqvist, et al. Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. J Med Case Rep. 2017 Aug 8;11(1):218. [Content Brief]

[10]. Merel S Ebberink, et al. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet. 2012 May;49(5):307-13. [Content Brief]

[11]. Merel S Ebberink, et al. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet. 2010 Sep;47(9):608-15. [Content Brief]

[12]. Naomi Matsumoto, et al. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet. 2003 Aug;73(2):233-46. [Content Brief]

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