Results 1 to 10 of about 7,234,150 (180)

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, Luc Tran, Rob Ofman, Josephine Brennecke, Ann B Moser, Inge M E Dijkstra, Ronald J A Wanders, Bwee Tien Poll-The, Stephan Kemp   +8 more
doaj   +6 more sources

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System [PDF]

Annals of the Child Neurology Society
Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked ...
Eda G. Kabak, Cecilie Videbaek, Marije M. C. Voermans, Björn M. van Geel, Keith van Haren, Stephan Kemp, Diederik van de Beek, Marc Engelen   +7 more
doaj   +3 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.
Michael Weller, Alexander Semmler, Hans H Jung   +2 more
exaly   +7 more sources

X-linked adrenoleukodystrophy and primary adrenal insufficiency [PDF]

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, Tommaso Todisco, Carla Bizzarri   +2 more
doaj   +4 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   +3 more sources

Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report. [PDF]

EJHaem
ABSTRACT Umbilical cord blood transplantation is a viable source of stem cells due to accessibility and low incidence of chronic graft‐versus‐host disease despite human‐leukocyte‐antigen mismatching. Disadvantages of low stem cell dose in larger recipients include delayed immune reconstitution, graft rejection, and mortality.
Granberg RE, Pfeiffer T, Sansar S, Galindo R, Shenoy S.   +4 more
europepmc   +2 more sources

Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort. [PDF]

J Clin Lab Anal
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Blas SM, Pujalte SP, Álvarez AM, Ríos AIÁ, Cabello BM, Moreno CN, Gila ALG, Fuentes ED, Moreno EV, Pecellín CD.   +9 more
europepmc   +2 more sources

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report [PDF]

Journal of International Medical Research
X-linked adrenoleukodystrophy is a rare peroxisomal disorder caused by mutations in ABCD1 , thereby resulting in impaired β-oxidation of very long-chain fatty acids.
Min Cheol Chang, Seoyon Yang
doaj   +2 more sources

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review [PDF]

Clinical Case Reports
X‐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, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 more
doaj   +2 more sources

Easily misdiagnosed X-linked adrenoleukodystrophy [PDF]

Italian Journal of Pediatrics
Background Addison’s disease and X-linked adrenoleukodystrophy (X-ALD) (Addison’s-only) are two diseases that need to be identified. Addison’s disease is easy to diagnose clinically when only skin and mucosal pigmentation symptoms are present. However, X-
Qiu-Hong Wang, Yang-Yang Wang, Jing Wang, Li-Ying Liu, Jing Gao, Guo-Zhen Hao, Chen Chen, Qian Lu, Shuo Dun, Qi Zhang, Li-Ping Zou   +10 more
doaj   +2 more sources