Entry Name Neonatal adrenoleukodystrophy
Subgroup Infantile Refsum disease
Supergrp Peroxisome biogenesis disorder [DS:
H00205 ]
Description 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.
Category Inherited metabolic disorder, Peroxisomal disease
Brite Human diseases in ICD-11 classification [BR:br08403 ] BRITE hierarchy Pathway Gene Comment For Refsum disease, see [DS:
H00075 ]
Other DBs Reference Authors Waterham HR, Ebberink MS
Title Genetics and molecular basis of human peroxisome biogenesis disorders.
Journal Reference Authors Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G
Title Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
Journal Reference Authors Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ
Title Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
Journal Reference Authors Gootjes J, Schmohl F, Waterham HR, Wanders RJ
Title Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Journal Reference Authors Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schluter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Korver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR
Title Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Journal Reference Authors Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A
Title Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
Journal Reference Authors Blomqvist M, Ahlberg K, Lindgren J, Ferdinandusse S, Asin-Cayuela J
Title Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
Journal Reference Authors Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
Title Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Journal Reference Authors Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S
Title Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Journal Reference Authors van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ
Title Identification of PEX7 as the second gene involved in Refsum disease.
Journal Reference Authors Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders RJA, Ferdinandusse S, Waterham HR
Title Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.
Journal Reference Authors Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR
Title A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11beta gene.
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