Results 11 to 20 of about 1,447 (169)

Adrenomyeloneuropathy with bulbar palsy: A rare association

Annals of Indian Academy of Neurology, 2014
Adrenomyeloneuropathy (AMN) is a variant of adrenoleukodystrophy (ALD), an X-linked recessive peroxisomal disorder associated with accumulation of very long chain fatty acids (VLCFA). Mutations of this gene lead to abnormal peroxisomal β-oxidation, which
Vishal Annaji Chafale, Satish Arunkumar Lahoti, Atanu Biswas, Arijit Roy, Asit Kumar Senapati   +4 more
doaj   +3 more sources

Adrenal insufficiency and the use of mineralocorticoid treatment in male patients with adrenoleukodystrophy; a retrospective analysis of an institutional database [PDF]

BMC Endocrine Disorders
Introduction Adrenoleukodystrophy (ALD) patients exhibit three primary clinical phenotypes: primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral demyelination due to the accumulation of saturated very long-chain fatty acids in the adrenal ...
Kidmealem L Zekarias, Michael Salim, Katelyn M Tessier, Angela Radulescu   +3 more
doaj   +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

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

International Journal of Neonatal Screening, 2022
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids.
Craig V. Baker, Alyssa Cady Keller, Richard Lutz, Karen Eveans, Krystal Baumert, James C. DiPerna, William B. Rizzo   +6 more
doaj   +1 more source

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

Frontiers in Neurology, 2023
BackgroundAs a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN.MethodsWe applied clinical evaluation, laboratory ...
Raoli He, Raoli He, Jian Zhang, Jian Zhang, Tianwen Huang, Tianwen Huang, Guoen Cai, Guoen Cai, Zhangyu Zou, Zhangyu Zou, Qinyong Ye, Qinyong Ye, Qinyong Ye   +12 more
doaj   +1 more source

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

Ann Child Neurol Soc
ABSTRACT 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 adrenoleukodystrophy” (ALD).
Kabak E, Videbaek C, Voermans M, van Geel B, van Haren K, Kemp S, van de Beek D, Engelen M.   +7 more
europepmc   +2 more sources

Adrenoleukodystrophy/Adrenomyeloneuropathy and Neurogenic Bladder Dysfunction. A Review

Juvenis Scientia, 2023
One of the conditions associated with adrenoleukodystrophy (ALD) / adrenomyeloneuropathy (AMN) is neurogenic lower urinary tract dysfunction (LUTD). A thorough examination of patients with ALD/AMN in most cases can reveal overactive bladder (OAB), which ...
Khudyakova, N.V., Pchelin, I.Yu., Shishkin, A.N., Soloviev, O.V., Smirnov, V.V.   +4 more
doaj   +1 more source

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, Seo-Young Lee, Sang-Wook Kim   +2 more
doaj   +1 more source

A variant of adrenomyeloneuropathy in a family with adrenoleukodystrophy and adrenomyeloneuropathy

Journal of Osteopathic Medicine, 1994
Abstract A 31-year-old man was seen with addisonian crisis, followed by the abrupt onset of spastic paraparesis and peripheral neuropathy. A workup revealed adrenal insufficiency, for which the patient was aggressively treated. The workup also revealed an increase in very-long-chain fatty acids consistent with the diagnosis of ...
D A, Simpson, A M, Pawlak, M A, Nigro, R, Wishnow   +3 more
openaire   +2 more sources

A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder

Journal of General and Family Medicine, 2020
A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract.
Koji Obara, Erika Abe, Nobuyuki Shimozawa, Itaru Toyoshima   +3 more
doaj   +1 more source