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A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report [PDF]

Heliyon
X-linked adrenoleukodystrophy (X-ALD) caused by ATP-binding cassette subfamily D member 1 (ABCD1) gene defects is the most common inherited peroxisomal disorder.The female cerebello-brainstem dominant type in which cerebellum and brainstem are mainly ...
Wenjing Qi, Du Cao, Lei Hao, Xiuming Guo
doaj   +5 more sources

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions. [PDF]

Genes (Basel)
The state of California (CA) added X-linked adrenoleukodystrophy (X-ALD) to newborn screening (NBS) in 2016 via the measurement of C26:0-lysophosphatidylcholine (C26:0-LPC) in a two-tier fashion, followed by sequencing of the ABCD1 gene. This has resulted in the identification of individuals with genetic conditions beyond X-ALD that can also result in ...
Mares Beltran CF, Tise CG, Barrick R, Niehaus AD, Sponberg R, Chang R, Enns GM, Abdenur JE.   +7 more
europepmc   +4 more sources

Phosphatidylcholine with C26:0 moiety, a precursor of a diagnostic marker for X-ALD, is synthesized by LPLAT10/LPEAT2. [PDF]

J Lipid Res
X-linked adrenoleukodystrophy (X-ALD) is a congenital metabolic disorder characterized mainly by inflammatory demyelination and adrenal insufficiency. Newborn screening using hexacosanoyl lysophosphatidylcholine (C26:0-LPC) in dried blood spots as a diagnostic marker can successfully identify potential patients with X-ALD and prevent disease onset. C26:
Hama K, Fujiwara Y, Imai K, Kusakabe Y, Hayashi Y, Takashima S, Azuma S, Kondo M, Yamashita A, Takita R, Shimozawa N, Yokoyama K.   +11 more
europepmc   +3 more sources

MRI demyelination pattern and clinical course in a child with cerebral X-linked adrenoleukodystrophy (X-ALD)

Acta Radiologica Open, 2015
The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination.
Johannes Nowak, Ulrike Löbel, Matthias Wölfl, Paul-Gerhardt Schlegel, Monika Warmuth-Metz   +4 more
doaj   +3 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

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, Tommaso Todisco, Carla Bizzarri   +2 more
doaj   +1 more source

Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction. Adrenoleukodystrophy (ALD) is a rare genetic disease, caused by mutations in ABCD1 gene located on the X chromosome (X-ALD), underdiagnosed worldwide. Case Outline.
Serapinas Danielius, Bartkeviciene Daiva, Valantinaviciene Emilija, Bandzeviciene Rita, Pukinskaite Ruta, Staikuniene Jurate, Asmoniene Virginija   +6 more
doaj   +1 more source

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature

International Journal of Endocrinology, 2022
Background. X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene.
Bingzi Dong, Wenshan Lv, Lili Xu, Yuhang Zhao, Xiaofang Sun, Zhongchao Wang, Bingfei Cheng, Zhengju Fu, Yangang Wang   +8 more
doaj   +1 more source

ANALYSIS OF THE FAMILY OF A PATIENT WITH X-LINKED ADRENOLEUKODYSTROPHY AND LITERATURE REVIEW [PDF]

精准医学杂志, 2023
Objective To analyze the mutation site in the ATP-binding cassette subfamily D member 1 gene (ABCD1) in the family of a patient with X-linked adrenoleukodystrophy (X-ALD), and to explore the diagnosis, treatment, and prognosis of X-ALD based on the ...
JIANG Jing, JIN Yang, WU Yujiao, LIU Xuewu
doaj   +1 more source

Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy [PDF]

Revista Brasileira de Oftalmologia, 2019
X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold.
Maria Angélica Tosi Ferreira, João Francisco de Oliveira Gonzales, Elisa Pacheco Estima Correia, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa   +5 more
doaj   +1 more source