Identification of a novelABCD1 mutation in a family with Adrenoleukodistrophy

X-linked adrenoleukodistrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by muta>ons in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain faGy acids (VLCFA; >22). A defect in ALDP results in elevated levels of VLCFA in plasma and >ssues. The clinical spectrum in males with X-ALD ranges from isolated adrenocor>cal insufficiency and slowly progressive myelopathy to devasta>ng cerebral demyelina>on. The majority of heterozygous females will develop symptoms by the age of 60 years. We describe a family with six members carrying a novel heterozygous muta>on IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene highligh>ng the wide range of phenotypic manifesta>ons of ALD.