X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects

Biochimica Et Biophysica Acta
Stephan KempPatrick Aubourg


X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane protein. ALDP deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. While all patients have mutations in the ABCD1 gene, there is no general genotype-phenotype correlation. Environmental factors and a multitude of modifying genes appear to determine the clinical manifestation in this monogenetic but multifactorial disease. This review focuses on the clinical, biochemical, genetic and pathophysiological aspects of X-ALD.


Jun 1, 1976·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·A B JohnsonJ M Powers
Jul 1, 1976·Journal of Neurochemistry·M GarashiK Suzuki
Apr 1, 1976·Journal of Neurochemistry·M IgarashiK Suzuki
Nov 15, 1992·American Journal of Medical Genetics·N E Maestri, T H Beaty
Jan 1, 1992·Progress in Lipid Research·D L CintiS K Suneja
Jul 16, 1990·Biochemical and Biophysical Research Communications·O A BizzozeroJ E Evans
Mar 1, 1991·Journal of Neurochemistry·O A BizzozeroM B Lees
Aug 1, 1985·Journal of the Neurological Sciences·C J ReineckeR H Simpson
Jun 1, 1971·Archives of Disease in Childhood·C C ForsythJ N Cumings
Jul 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·I SinghH W Moser
Sep 16, 1980·Biochemical and Biophysical Research Communications·Y KishimotoC Fenselau
Nov 13, 1995·Biochemical and Biophysical Research Communications·J BergerG Fischer
Feb 28, 1995·Proceedings of the National Academy of Sciences of the United States of America·N CartierO Danos
Jul 1, 1993·Journal of Neurochemistry·R Wilson, J R Sargent
Aug 1, 1996·Journal of Neurology, Neurosurgery, and Psychiatry·V ChaudhryD R Cornblath
Mar 9, 1999·Molecular Genetics and Metabolism·C D BoehmS S Chong
Dec 10, 1999·AJR. American Journal of Roentgenology·E R MelhemH W Moser
Feb 28, 2001·Annals of Neurology·B M van GeelG V Raymond
Mar 29, 2001·Pediatric Neurology·M L ChuH L Weiner
Sep 18, 2001·Annals of Neurology·M Di RoccoU Caruso
Jan 9, 2003·Journal of Lipid Research·Natalie J MunnLaura Liscum
Feb 19, 2003·Nature Genetics·Corinna Lappe-SiefkeKlaus-Armin Nave
May 29, 2004·Biochimica Et Biophysica Acta·Pedro BritesRonald J A Wanders
Jan 27, 2005·Molecular Genetics and Metabolism·Stephan KempRonald J A Wanders
Apr 1, 2005·Human Molecular Genetics·Muriel AsheuerPatrick Aubourg
Oct 22, 2005·Annals of Neurology·Prachi DubeyGerald V Raymond
Mar 28, 2006·Progress in Lipid Research·Andreas JakobssonAnders Jacobsson

❮ Previous
Next ❯


Sep 18, 2012·Journal of Biochemistry·Akio Kihara
Aug 23, 2012·PloS One·Marc EngelenStephan Kemp
Jan 10, 2013·PloS One·Cyntia Anabel AmorosiAna María Oller de Ramírez
Mar 14, 2014·The Journal of Endocrinology·R PrasadL A Metherell
Aug 15, 2014·Current Neurology and Neuroscience Reports·Marc EngelenBwee-Tien Poll-The
Aug 1, 2015·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Kotaro OgakiDennis W Dickson
Feb 24, 2016·La Presse médicale·Leonardo AstudilloThierry Levade
Dec 18, 2013·Seminars in Pediatric Neurology·Karen S Carvalho
May 11, 2015·Molecular Genetics and Metabolism·Gregory P ForlenzaAnna Petryk
Feb 19, 2013·Trends in Endocrinology and Metabolism : TEM·Elizabeth J TarlingPeter A Edwards
May 9, 2015·Mass Spectrometry Reviews·Daniela OmbroneGiancarlo la Marca
Nov 26, 2015·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Avi FellnerRuth Djaldetti
Dec 22, 2015·Biochimica Et Biophysica Acta·Johannes BergerMarkus Kunze
Mar 5, 2016·Journal of Inherited Metabolic Disease·Sacha FerdinandusseRonald J A Wanders
Oct 16, 2015·Pediatric Neurology·Juliana Silva de Almeida MagalhãesMarcelo Rodrigues Masruha
Nov 28, 2015·Biochimica Et Biophysica Acta·Hans R WaterhamRonald J A Wanders
Oct 11, 2015·Biochimica Et Biophysica Acta·Myriam Baes, Paul P Van Veldhoven
Jul 24, 2015·Brain Pathology·Stephanie De MunterMyriam Baes
Aug 15, 2015·Clinical Case Reports·Giovanna TraficanteSabrina Giglio
May 31, 2015·Brain : a Journal of Neurology·Marie CoutelierGiovanni Stevanin
Jun 1, 2016·Endocrinology and Metabolism Clinics of North America·Elizabeth Burtman, Molly O Regelmann
Oct 8, 2013·Pediatric Neurology·Mayumi MatsufujiKen Inoue
Apr 25, 2014·The Biochemical Journal·Sonali GulatiAlice J Rothnie
Jul 15, 2015·Cellular and Molecular Neurobiology·Marion DeonCarmen Vargas
Dec 17, 2014·Biochimica Et Biophysica Acta·Martin J A SchackmannStephan Kemp
Jun 19, 2013·Molecular Genetics and Metabolism·Sara PetrilloEnrico Bertini
Sep 10, 2013·Biochimie·Ronald J A Wanders
Dec 10, 2013·Biochimie·J BergerF S Eichler
Feb 8, 2014·Lancet·Evangelia CharmandariGeorge P Chrousos
Jun 17, 2014·Neuroscience and Biobehavioral Reviews·Mehdi Ghasemi, Ali Fatemi
Oct 14, 2014·Journal of the Neurological Sciences·Serena NannucciLeonardo Pantoni
Dec 10, 2014·Journal of Inherited Metabolic Disease·Björn M van GeelMarc Engelen
Nov 8, 2014·Journal of Endocrinological Investigation·G MarcucciM L Brandi
Aug 30, 2014·Human Molecular Genetics·Sacha FerdinandusseDavid Valle

❮ Previous
Next ❯

Related Concepts

Related Feeds


Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

Addison Disease

Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones. Discover the latest research on Addison's disease here.


Astrocytes are glial cells that support the blood-brain barrier, facilitate neurotransmission, provide nutrients to neurons, and help repair damaged nervous tissues. Here is the latest research.


Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis