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@article{955ffef1f0c741e59c4f942fe3ac3d45,
title = "X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management: Clinical presentation and guidelines for diagnosis, follow-up and management",
abstract = "X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; >= C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder",
keywords = "ABCD1, Addisons disease, Demyelinating disorder, Leukodystrophy, Myelin, Myelopathy, Peroxisome, Very long-chain fatty acids, VLCFA, X-ALD, X-linked adrenoleukodystrophy",
author = "Marc Engelen and Stephan Kemp and {de Visser}, Marianne and {van Geel}, {Bj{\"o}rn M.} and Wanders, {Ronald J. A.} and Patrick Aubourg and Poll-The, {Bwee Tien}",
year = "2012",
doi = "10.1186/1750-1172-7-51",
language = "English",
volume = "7",
journal = "Orphanet journal of rare diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "1",

}

RIS

TY - JOUR

T1 - X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

T2 - Clinical presentation and guidelines for diagnosis, follow-up and management

AU - Engelen, Marc

AU - Kemp, Stephan

AU - de Visser, Marianne

AU - van Geel, Björn M.

AU - Wanders, Ronald J. A.

AU - Aubourg, Patrick

AU - Poll-The, Bwee Tien

PY - 2012

Y1 - 2012

N2 - X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; >= C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder

AB - X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; >= C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder

KW - ABCD1

KW - Addisons disease

KW - Demyelinating disorder

KW - Leukodystrophy

KW - Myelin

KW - Myelopathy

KW - Peroxisome

KW - Very long-chain fatty acids

KW - VLCFA

KW - X-ALD

KW - X-linked adrenoleukodystrophy

UR - http://www.scopus.com/inward/record.url?scp=84864816455&partnerID=8YFLogxK

U2 - 10.1186/1750-1172-7-51

DO - 10.1186/1750-1172-7-51

M3 - Review article

C2 - 22889154

VL - 7

JO - Orphanet journal of rare diseases

JF - Orphanet journal of rare diseases

SN - 1750-1172

IS - 1

ER -

ID: 1726160