hrp0086rfc1.4 | Adrenals | ESPE2016

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

Vu Dung , Nguyen Ngoc Khanh , Nguyen Thu Ha , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Phu Dat , Shimozawa Nobuyuki

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...