Results 21 to 30 of about 13,602 (165)

Adrenoleukodystrophy: A Rare Clinical Scenario [PDF]

Indian Journal of Private Psychiatry
Background: Adrenoleukodystrophy is a genetic disorder involving the peroxisomes, that leads to defects in beta-oxidation and collection of very long-chain fatty acids.
Antara Kunwar, Jitendriya Biswal
doaj   +1 more source

Adrenoleukodystrophy

, 2010
X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. Mutations in ALDP result in elevated levels of very long chain fatty acids (VLCFA) and reduced VLCFA oxidation in peroxisomes. Three main phenotypes are seen in affected males. The childhood cerebral form manifests
Cappa M, Bizzarri C, Vollono C, Petroni A, BANNI, SEBASTIANO   +4 more
openaire   +4 more sources

Uptake and metabolism of plasma-derived erucic acid by rat brain

Journal of Lipid Research, 2006
We examined the ability of erucic acid (22:1n-9) to cross the blood-brain barrier (BBB) by infusing [14–14C]22:1n-9 (170 μCi/kg, iv and icv) into awake, male rats. [1-14C]arachidonic acid (20:4n-6) [intravenous (i.v.)] was the positive control. After i.v.
Mikhail Y. Golovko, Eric J. Murphy
doaj   +1 more source

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

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   +1 more source

Interactions of very long-chain saturated fatty acids with serum albumin

Journal of Lipid Research, 2002
The remarkable binding properties of serum albumin have been investigated extensively, but little is known about an important class of fatty acids, the very long-chain saturated fatty acids (VLCFA; >18 carbons). Although VLCFA are metabolized efficiently
Ji-Kyung Choi, Jet Ho, Stephen Curry, Donghui Qin, Robert Bittman, James A. Hamilton   +5 more
doaj   +1 more source

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

Revista Paulista de Pediatria
Objective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related
Fernanda Luiza Schumacher Furlan, Macleise Andres Lemes, Ligia Cecilia Fuverki Suguimatsu, Carolina Teixeira Furquim Pires, Mara Lucia Schmitz Ferreira Santos   +4 more
doaj   +1 more source

Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature

Nigerian Journal of Paediatrics, 2021
Adrenoleukodystrophy (ALD) is a hereditary, X-linked metabolic disorder with autosomal recessive traits. It arises from mutation in ABCD1 gene on chromosome Xq28.
Akowundu Pauline Karachi, Opoola Zainab Aramide, Ibrahim Usman Olaitan, Lesi Foluso Afolab   +3 more
doaj  

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

Journal of Neuroinflammation, 2011
Background Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA).
Orchard Paul J, Lund Troy, Miller Wes, Rothman Steven M, Raymond Gerald, Nascene David, Basso Lisa, Cloyd James, Tolar Jakub   +8 more
doaj   +1 more source

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Frontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi, Xiaoxue Shi, Xiaoxue Shi, Xuelin Qi, Xuelin Qi, Jinhua Zheng, Jinhua Zheng, Jinhua Zheng, Jianjun Ma, Jianjun Ma, Jianjun Ma, Dongsheng Li, Dongsheng Li, Dongsheng Li   +13 more
doaj   +1 more source