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Adrenoleukodystrophy

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https://www.readbyqxmd.com/read/29909188/late-diagnosed-phenylketonuria-mimicking-x-linked-adrenoleukodystrophy-with-heterozygous-mutations-of-the-pah-gene-a-case-report-and-literature-review
#1
REVIEW
Yinglu Liu, Zhao Dong, Shengyuan Yu
Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect on the brain and are associated with several neurological signs. Most cases of PKU are identified during infancy, and diagnosis of PKU in adult is rare. Here, we describe a 29-year-old patient with progressive dementia and muscular weakness mimicking X-linked adrenoleukodystrophy...
June 11, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29860501/impaired-plasticity-of-macrophages-in-x-linked-adrenoleukodystrophy
#2
Isabelle Weinhofer, Bettina Zierfuss, Simon Hametner, Magdalena Wagner, Niko Popitsch, Christian Machacek, Barbara Bartolini, Gerhard Zlabinger, Anna Ohradanova-Repic, Hannes Stockinger, Wolfgang Köhler, Romana Höftberger, Günther Regelsberger, Sonja Forss-Petter, Hans Lassmann, Johannes Berger
X-linked adrenoleukodystrophy is caused by ATP-binding cassette transporter D1 (ABCD1) mutations and manifests by default as slowly progressive spinal cord axonopathy with associated demyelination (adrenomyloneuropathy). In 60% of male cases, however, X-linked adrenoleukodystrophy converts to devastating cerebral inflammation and demyelination (cerebral adrenoleukodystrophy) with infiltrating blood-derived monocytes and macrophages and cytotoxic T cells that can only be stopped by allogeneic haematopoietic stem cell transplantation or gene therapy at an early stage of the disease...
May 30, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29794777/a-novel-mutation-in-the-abcd1-gene-of-a-chinese-patient-with-x-linked-adrenoleukodystrophy-case-report
#3
Jing Wang, Qian Zhu, Hongqian Liu
RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD. PATIENT CONCERNS: We report a case of Chinese boy with childhood cerebral ALD, who began experiencing symptoms at the age of 5 years and 2 months. Very long chain fatty acids analysis revealed high levels of C24/C22 ratio and C26/C22 ratio in the plasma...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29768358/spastic-paraparesis-caused-by-x-linked-adrenoleukodystrophy-mimicking-vacuolar-myelopathy-in-a-human-immunodeficiency-virus-patient-a-case-report
#4
Jin-Sung Park, Donghwi Park
RATIONALE: Vacuolar myelopathy is one of most common cause of spastic paresis in patients with human immunodeficiency virus (HIV) infection. However, X-linked adrenoleukodystrophy (X-ALD), which is a metabolic disorder caused by impairment of peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFA), also manifests as various neurological deteriorations including adult onset spastic paraparesis. To the best of our knowledge, there has been no report of newly developed spastic paresis due to X-ALD in a patient with HIV infection...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766690/garden-nasturtium-tropaeolum-majus-l-a-source-of-mineral-elements-and-bioactive-compounds
#5
Karolina Jakubczyk, Katarzyna Janda, Katarzyna Watychowicz, Jagoda Łukasiak, Jolanta Wolska
The garden nasturtium (Tropaeolum majus L.) belongs to the family Tropaeolaceae. Native to South America it was brought to Europe in XVI century. It is a plant with numerous healing properties. Medicinal plants such as the garden nasturtium contain trace elements and bioactive compounds which can be easily absorbed by the human body. The flowers and other parts of the garden nasturtium are a good source of micro elements such as potassium, phosphorus, calcium and magnesium, and macro elements, especially of zinc, copper and iron...
2018: Roczniki Państwowego Zakładu Higieny
https://www.readbyqxmd.com/read/29750285/updates-in-newborn-screening
#6
Farrah Rajabi
Newborn screening in the United States is an important public health measure to provide early detection for specified disorders when early treatment is both possible and beneficial. As technology improves, newborn screening can be offered for many more conditions. In the past 10 years, screening has expanded to include severe combined immunodeficiency, congenital heart disease, lysosomal storage disease, and X-linked adrenoleukodystrophy. This article reviews the current state of newborn screening with updates on recent developments...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29740390/a-novel-variant-in-abcd1-gene-presenting-as-adolescent-onset-atypical-adrenomyeloneuropathy-with-spastic-ataxia
#7
Yanxing Chen, Jianfang Zhang, Jianwen Wang, Kang Wang
X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-ALD. The 19-year-old proband had presented with atypical symptoms of adrenomyeloneuropathy (AMN) for 3 years, only with spastic paraparesis, cerebellar ataxia, and cerebellar atrophy with white matter hyperintensity...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29739804/etiology-and-treatment-of-adrenoleukodystrophy-new-insights-from-drosophila
#8
Hannah B Gordon, Lourdes Valdez, Anthea Letsou
Adrenoleukodystrophy (ALD) is a fatal progressive neurodegenerative disorder affecting brain white matter. The most common form of ALD is X-linked (X-ALD) and results from mutation of the ABCD1 -encoded very long chain fatty acid (VLCFA) transporter. X-ALD is clinically heterogeneous, with the cerebral form being the most severe. Diagnosed in boys usually between the ages of 4 and 8, cerebral X-ALD symptoms progress rapidly (in as little as two years) through declines in cognition, learning, and behavior, to paralysis and ultimately to a vegetative state and death...
May 8, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29730299/plasma-oxysterol-profiling-in-children-reveals-24-hydroxycholesterol-as-a-potential-marker-for-autism-spectrum-disorders
#9
S Grayaa, C Zerbinati, M Messedi, I HadjKacem, M Chtourou, D Ben Touhemi, M Naifar, H Ayadi, F Ayedi, L Iuliano
Cholesterol and its oxygenated metabolites, such as oxysterols, are intensively investigated as potential players in the pathophysiology of brain disorder. Altered oxysterol levels have been described in patients with numerous neuropsychiatric disorders, including Alzheimer's disease, Amyotrophic Lateral Sclerosis, Parkinson's disease, X-linked adrenoleukodystrophy, and Smith-Lemli-Opitz Syndrome. Recent studies have shown that Autism Spectrum Disorders are associated with disruption of cholesterol metabolism...
May 3, 2018: Biochimie
https://www.readbyqxmd.com/read/29708222/when-multiple-sclerosis-and-x-linked-adrenoleukodystrophy-are-tangled-a-challenging-case
#10
Anderson Rodrigues Brandão de Paiva, Carlos Rory Pucci Filho, Alan Monteiro Porto, Fabrício Stewan Feltrin, Fernando Kok, Carlos Henrique Ferreira Camargo
No abstract text is available yet for this article.
April 2018: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29694951/vanishing-17-hydroxyprogesterone-concentrations-in-21-hydroxylase-deficiency
#11
Thomas Reinehr, Juliane Rothermel, Andreas Wegener-Panzer, Michaela F Hartmann, Stefan A Wudy, Paul-Martin Holterhus
We present a boy with a genetically proven congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. While massively elevated 17-hydroxyprogesterone (17-OHP) concentrations after birth led to the diagnosis, 17-OHP concentrations became immeasurable starting with the second year of life even though the dose of hydrocortisone was continuously decreased to ∼7 mg/m2/day. Furthermore, 17-OHP levels were immeasurable during the ACTH test and after withdrawing hydrocortisone medication. In contrast, ACTH levels increased after cessation of hydrocortisone treatment suggesting complete primary adrenal cortex failure...
April 25, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29680633/multiplex-tandem-mass-spectrometry-assay-for-newborn-screening-of-x-linked-adrenoleukodystrophy-biotinidase-deficiency-and-galactosemia-with-flexibility-to-assay-other-enzyme-assays-and-biomarkers
#12
Xinying Hong, Arun Babu Kumar, C Ronald Scott, Michael H Gelb
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as to improve the current protocol for newborn screening of galactosemia.A 3 mm punch of a dried blood spot (DBS) was extracted with organic solvent for analysis of the C26:0-lysophosphatidylcholine biomarker for X-ALD...
June 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29620081/relative-adrenal-insufficiency-in-adult-onset-cerebral-x-linked-adrenoleukodystrophy
#13
Takeo Sato, Tadashi Umehara, Atsuo Nakahara, Hisayoshi Oka
No abstract text is available yet for this article.
October 2017: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29615068/modeling-and-rescue-of-defective-blood-brain-barrier-function-of-induced-brain-microvascular-endothelial-cells-from-childhood-cerebral-adrenoleukodystrophy-patients
#14
Catherine A A Lee, Hannah S Seo, Anibal G Armien, Frank S Bates, Jakub Tolar, Samira M Azarin
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene. 40% of X-ALD patients will convert to the deadly childhood cerebral form (ccALD) characterized by increased permeability of the brain endothelium that constitutes the blood-brain barrier (BBB). Mutation information and molecular markers investigated to date are not predictive of conversion. Prior reports have focused on toxic metabolic byproducts and reactive oxygen species as instigators of cerebral inflammation and subsequent immune cell invasion leading to BBB breakdown...
April 4, 2018: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/29560371/post-transplant-adaptive-function-in-childhood-cerebral-adrenoleukodystrophy
#15
Elizabeth I Pierpont, Erin McCoy, Kelly E King, Rich S Ziegler, Ryan Shanley, David Nascene, Gerald V Raymond, Rachel Phelan, Troy C Lund, Paul J Orchard, Weston P Miller
Objective: Hematopoietic stem cell transplantation (HSCT) is the only treatment known to slow or halt inflammatory demyelination among boys with the cerebral form of X-linked adrenoleukodystrophy (cALD), a devastating childhood condition affecting the central nervous system. HSCT can lead to a range of adverse outcomes including fatality. Previous studies have examined the potential predictors of post-HSCT survival and neurologic functioning. However, little is known about patients' daily-life adaptive functional outcomes (i...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29557549/-x-linked-adrenoleukodystrophy-with-an-atypical-radiological-pattern
#16
A Ulate-Campos, J Petanas-Argemi, M Rebollo-Polo, C Jou, C Sierra, J Armstrong, M C Fons-Estupina
INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location. CASE REPORT: We report the case of a 10-year-old boy with right spastic hemiparesis and subacute cognitive impairment...
April 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29482424/histologic-and-ultrastructural-features-in-early-and-advanced-phases-of-zellweger-spectrum-disorder-infantile-refsum-disease
#17
Mikako Warren, Gary Mierau, Eric P Wartchow, Hiroyuki Shimada, Shoji Yano
Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes. Patients with ZSD commonly demonstrate nonspecific hepatic symptoms within the first year, often without clinical suspicion of ZSD...
February 26, 2018: Ultrastructural Pathology
https://www.readbyqxmd.com/read/29476661/epigenomic-signature-of-adrenoleukodystrophy-predicts-compromised-oligodendrocyte-differentiation
#18
Agatha Schlüter, Juan Sandoval, Stéphane Fourcade, Angel Díaz-Lagares, Montserrat Ruiz, Patrizia Casaccia, Manel Esteller, Aurora Pujol
Epigenomic changes may either cause disease or modulate its expressivity, adding a layer of complexity to mendelian diseases. X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic condition exhibiting discordant phenotypes, ranging from a childhood cerebral inflammatory demyelination (cALD) to an adult-onset mild axonopathy in spinal cords (AMN). The AMN form may occur with superimposed inflammatory brain demyelination (cAMN). All patients harbor loss of function mutations in the ABCD1 peroxisomal transporter of very-long chain fatty acids...
February 24, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29469952/profiling-and-imaging-of-phospholipids-in-brains-of-abcd1-deficient-mice
#19
Kotaro Hama, Yuko Fujiwara, Masashi Morita, Fumiyoshi Yamazaki, Yuko Nakashima, Shiro Takei, Shigeo Takashima, Mitsutoshi Setou, Nobuyuki Shimozawa, Tsuneo Imanaka, Kazuaki Yokoyama
ABCD1 is a gene responsible for X-linked adrenoleukodystrophy (X-ALD), and is critical for the transport of very long-chain fatty acids (VLCFA) into peroxisomes and subsequent β-oxidation. VLCFA-containing lipids accumulate in X-ALD patients, although the effect of ABCD1-deficiency on each lipid species in the central nervous system has not been fully characterized. In this study, each phospholipid and lysophospholipid species in Abcd1-deficient mice brains were profiled by liquid chromatography-mass spectrometry...
January 2018: Lipids
https://www.readbyqxmd.com/read/29446847/lipidomic-analysis-from-archaea-to-mammals
#20
REVIEW
Tomáš Řezanka, Irena Kolouchová, Lucia Gharwalová, Andrea Palyzová, Karel Sigler
Lipids are among the most important organic compounds found in all living cells, from primitive archaebacteria to flowering plants or mammalian cells. They form part of cell walls and constitute cell storage material. Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microorganisms, e.g. algae) and human diseases such as adrenoleukodystrophy, Zellweger syndrome, or Refsum disease. Current lipidomic analysis requires fast and accurate processing of samples and especially their characterization...
January 2018: Lipids
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