Results 1 to 10 of about 365 (120)
Bezafibrate for X-linked adrenoleukodystrophy. [PDF]
PLoS ONE, 2012 X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids (VLCFA) and subsequent VLCFA accumulation in tissues. In adulthood X-ALD most commonly manifests
Marc Engelen +8 more
doaj +5 more sources
Therapy of X-linked adrenoleukodystrophy [PDF]
Expert Review of Neurotherapeutics, 2008 X-linked adrenoleukodystrophy (X-ALD; OMIM #300100) is caused by defects of the ABCD1 gene on chromosome Xq28, resulting in an impairment of peroxisomal beta-oxidation and the accumulation of saturated very long chain fatty acids (VLCFAs). Primary manifestations occur in the CNS, the adrenal cortex and the testes' Leydig cells.
Alexander Semmler +2 more
exaly +5 more sources
Clinical Case ReportsX‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation ...
Fu‐Qing Zhang +4 more
doaj +2 more sources
X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations
SAGE Open Medical Case Reports, 2017 Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric ...
Daniah Shamim, Karen Alleyne
doaj +2 more sources
X-linked cerebral adrenoleukodystrophy
BMJ Case Reports, 2023 A man in his 30s presented with a 6-month history of progressive left face, arm and leg weakness. Medical history included epilepsy and vitamin B12 deficiency. Three maternal second degree relatives died before the age of 7 from various neurological disorders.
Weldrick, Cara Louise +3 more
openaire +2 more sources
MRI in X-linked adrenoleukodystrophy [PDF]
Neurology, 2015 A 45-year-old man with no medical history presented with behavioral changes. He was withdrawn from his family and friends. Home and finances had fallen into disorder. He was disheveled and incontinent of urine and feces. He lacked insight into his cognitive decline. His skin was bronzed and the examination was notable only for upgoing plantar responses.
Saima, Siddiqui +2 more
openaire +2 more sources
Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]
Endocrinology and Metabolism, 2020 X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho +2 more
doaj +1 more source
X-linked adrenoleukodystrophy and primary adrenal insufficiency
Frontiers in Endocrinology, 2023 X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP ...
Marco Cappa +2 more
doaj +1 more source
A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction [PDF]
Journal of Movement Disorders, 2009 X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy.
Seunguk Jung +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background The peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class of medical conditions caused by deficiencies in peroxisome function and are segmented into enzyme-and ...
Zhixing Zhu +7 more
doaj +1 more source