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A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD
Author(s) -
Porto Kristine Joyce,
Matsukawa Takashi,
Ishiura Hiroyuki,
Mitsui Jun,
Matic Alexandria,
Yu Justine Megan,
Dominguez Jacqueline,
Damian Ludwig,
Toda Tatsushi,
Tsuji Shoji
Publication year - 2020
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12425
Subject(s) - medicine , mutation , gene , genetics , biology
X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder caused by a mutation in ABCD1 gene. We present a 36‐year‐old, Filipino male, diagnosed with adrenomyeloneuropathy with later development of adult‐onset cerebral form of X‐ALD with a novel mutation c.2012T > C (p.Leu671Pro) in exon 10 of the ABCD1 gene. It is important that clinicians have high clinical suspicion because of the proven clinical efficacy of hematopoietic stem cell transplantation performed in the early stage of the disease.