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https://www.readbyqxmd.com/read/29193829/riboflavin-transporter-deficiency-mimicking-mitochondrial-myopathy-caused-by-complex-ii-deficiency
#1
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Andrews
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8-year-old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss...
November 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29183865/intraventricular-glioblastoma-multiforme-in-a-child-with-l2-hydroxyglutaric-aciduria
#2
Ai Peng Tan, Kshitij Mankad
L2-hydroxyglutaric aciduria (L2-HGA) is a rare neurometabolic disease characterised by accumulation of L2-hydroxyglutarate (L2-HG), a potential oncometabolite resulting in significant lifetime risk for cerebral tumors. Here in, we present a case of intraventricular glioblastoma multiforme (GBM) in a 16-year-old child with L2-HGA who presented with rapid functional decline and persistent vomiting. The tumour was completely resected and the patient remained well at 2-year follow up. Clinicians should be aware of the usual insidious nature of the disease...
November 25, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29181426/mitochondrial-matrix-ph-as-a-decisive-factor-in-neurometabolic-imaging
#3
Patrick M Schaefer, Diana Hilpert, Moritz Niederschweiberer, Larissa Neuhauser, Sviatlana Kalinina, Enrico Calzia, Angelika Rueck, Bjoern von Einem, Christine A F von Arnim
Alterations of cellular bioenergetics are a common feature in most neurodegenerative disorders. However, there is a selective vulnerability of different brain regions, cell types, and even mitochondrial populations to these metabolic disturbances. Thus, the aim of our study was to establish and validate an in vivo metabolic imaging technique to screen for mitochondrial function on the subcellular level. Based on nicotinamide adenine dinucleotide (phosphate) fluorescence lifetime imaging microscopy [NAD(P)H FLIM], we performed a quantitative correlation to high-resolution respirometry...
October 2017: Neurophotonics
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#4
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29128155/motor-neuron-disease-in-inherited-neurometabolic-disorders
#5
REVIEW
P Victor Sgobbi de Souza, T Bortholin, F George Monteiro Naylor, M Antônio Troccoli Chieia, W Bocca Vieira de Rezende Pinto, A Souza Bulle Oliveira
Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases...
November 8, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/29116375/uncoupling-n-acetylaspartate-from-brain-pathology-implications-for-canavan-disease-gene-therapy
#6
Georg von Jonquieres, Ziggy H T Spencer, Benjamin D Rowlands, Claudia B Klugmann, Andre Bongers, Anne E Harasta, Kristina E Parley, Jennie Cederholm, Orla Teahan, Russell Pickford, Fabien Delerue, Lars M Ittner, Dominik Fröhlich, Catriona A McLean, Anthony S Don, Miriam Schneider, Gary D Housley, Caroline D Rae, Matthias Klugmann
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform leukodystrophy has not met expectations. To identify the target tissue and cells for maximum anticipated treatment benefit, we employed comprehensive phenotyping of novel mouse models to assess cell type-specific consequences of NAA depletion or elevation...
November 7, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29110179/a-double-blind-placebo-controlled-trial-of-triheptanoin-in-adult-polyglucosan-body-disease-and-open-label-long-term-outcome
#7
Raphael Schiffmann, Mary E Wallace, Daisy Rinaldi, Isabelle Ledoux, Marie-Pierre Luton, Scott Coleman, H Orhan Akman, Karine Martin, Jean-Yves Hogrel, Derek Blankenship, Jacob Turner, Fanny Mochel
BACKGROUND: Adult polyglucosan body disease (APBD) is a progressive neurometabolic disorder caused by a deficiency of glycogen branching enzyme. We tested the efficacy of triheptanoin as a therapy for patients with APBD based on the hypothesis that decreased glycogen degradation leads to brain energy deficit. METHODS AND RESULTS: This was a two-site, randomized crossover trial of 23 patients (age 35-73 years; 63% men) who received triheptanoin or vegetable oil as placebo...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29103428/overview-of-inflammation-in-neurometabolic-diseases
#8
Gregory A Grabowski
Neuroinflammation is an intrinsic component of the neurodegeneration of inborn errors of neurometabolic diseases. Diseases resulting in lysosomal, peroxisomal, and autophagocytic disruption lead to neuroinflammation by different mechanisms relating to accumulated substrates and/or downstream deficiencies that cause presymptomatic microglial activation, axonal instabilities and/or direct hyperactivation of intrinsic inflammatory mechanisms. Only in selected diseases is the blood-brain barrier (BBB) breached, thereby permitting peripheral adaptive immune mechanisms to amplify intrinsic immune reactions in the central nervous system...
August 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29098188/translating-endocannabinoid-biology-into-clinical-practice-cannabidiol-for-stroke-prevention
#9
REVIEW
Eugene L Scharf
Introduction: The endocannabinoid system (ECS) regulates functions throughout human physiology, including neuropsychiatric, cardiovascular, autonomic, metabolic, and inflammatory states. The complex cellular interactions regulated by the ECS suggest a potential for vascular disease and stroke prevention by augmenting central nervous and immune cell endocannabinoid signaling. Discussion: The endocannabinoid N-arachidonoylethanolamine (anandamide) plays a central role in augmenting these processes in cerebrovascular and neurometabolic disease...
2017: Cannabis and Cannabinoid Research
https://www.readbyqxmd.com/read/29064470/neurometabolic-disease-gene-therapy-success-for-cerebral-adrenoleukodystrophy
#10
Charlotte Ridler
No abstract text is available yet for this article.
October 23, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29044647/epilepsy-and-astrocyte-energy-metabolism
#11
Detlev Boison, Christian Steinhäuser
Epilepsy is a complex neurological syndrome characterized by neuronal hyperexcitability and sudden, synchronized electrical discharges that can manifest as seizures. It is now increasingly recognized that impaired astrocyte function and energy homeostasis play key roles in the pathogenesis of epilepsy. Excessive neuronal discharges can only happen, if adequate energy sources are made available to neurons. Conversely, energy depletion during seizures is an endogenous mechanism of seizure termination. Astrocytes control neuronal energy homeostasis through neurometabolic coupling...
October 17, 2017: Glia
https://www.readbyqxmd.com/read/29031613/pathogenic-mutations-of-the-human-mitochondrial-citrate-carrier-slc25a1-lead-to-impaired-citrate-export-required-for-lipid-dolichol-ubiquinone-and-sterol-synthesis
#12
Homa Majd, Martin S King, Anthony C Smith, Edmund R S Kunji
Missense mutations of the human mitochondrial citrate carrier, encoded by the SLC25A1 gene, lead to an autosomal recessive neurometabolic disorder characterised by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development, often resulting in early death. Here, we have measured the effect of all twelve known pathogenic mutations on the transport activity. The results show that nine mutations abolish transport of citrate completely, whereas the other three reduce the transport rate by >70%, indicating that impaired citrate transport is the most likely primary cause of the disease...
October 12, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28987164/neurometabolic-and-neurodegenerative-diseases-in-children
#13
Josefine Radke, Werner Stenzel, Hans Hilmar Goebel
Neurometabolic and neurodegenerative diseases in children (NDDC) differ from those in adults in that most of the former are autosomal-recessively inherited - few have X-linked inheritance - while the latter are often sporadic or autosomal-dominantly inherited. NDDC may be catabolic and/or anabolic conditions, some of which combine maldevelopmental and degenerative features, for instance, peroxisomal biogenesis disorders or congenital disorders of glycosylation. NDDC are often multiorgan disorders, such as lysosomal, peroxisomal, and polyglucosan disorders...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28934191/effects-of-aerobic-exercise-on-brain-metabolism-and-grey-matter-volume-in-older-adults-results-of-the-randomised-controlled-smart-trial
#14
S Matura, J Fleckenstein, R Deichmann, T Engeroff, E Füzéki, E Hattingen, R Hellweg, B Lienerth, U Pilatus, S Schwarz, V A Tesky, L Vogt, W Banzer, J Pantel
There is mounting evidence that aerobic exercise has a positive effect on cognitive functions in older adults. To date, little is known about the neurometabolic and molecular mechanisms underlying this positive effect. The present study used magnetic resonance spectroscopy and quantitative MRI to systematically explore the effects of physical activity on human brain metabolism and grey matter (GM) volume in healthy aging. This is a randomised controlled assessor-blinded two-armed trial (n=53) to explore exercise-induced neuroprotective and metabolic effects on the brain in cognitively healthy older adults...
July 18, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28916769/therapeutic-effects-of-the-mitochondrial-ros-redox-modulator-kh176-in-a-mammalian-model-of-leigh-disease
#15
Ria de Haas, Devashish Das, Alejandro Garanto, Herma G Renkema, Rick Greupink, Petra van den Broek, Jeanne Pertijs, Rob W J Collin, Peter Willems, Julien Beyrath, Arend Heerschap, Frans G Russel, Jan A Smeitink
Leigh Disease is a progressive neurometabolic disorder for which a clinical effective treatment is currently still lacking. Here, we report on the therapeutic efficacy of KH176, a new chemical entity derivative of Trolox, in Ndufs4 (-/-) mice, a mammalian model for Leigh Disease. Using in vivo brain diffusion tensor imaging, we show a loss of brain microstructural coherence in Ndufs4 (-/-) mice in the cerebral cortex, external capsule and cerebral peduncle. These findings are in line with the white matter diffusivity changes described in mitochondrial disease patients...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28915122/understanding-fetal-factors-that-contribute-to-preterm-birth-sj%C3%A3-gren-larsson-syndrome-as-a-model
#16
Pippa Staps, Marije Hogeveen, Joris Fuijkschot, Joris van Drongelen, Michèl A A P Willemsen
AIM: Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. METHODS: Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease...
September 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28899744/neural-and-metabolic-basis-of-dynamic-resting-state-fmri
#17
REVIEW
Garth J Thompson
Resting state fMRI (rsfMRI) as a technique showed much initial promise for use in psychiatric and neurological diseases where diagnosis and treatment were difficult. To realize this promise, many groups have moved towards examining "dynamic rsfMRI," which relies on the assumption that rsfMRI measurements on short time scales remain relevant to the underlying neural and metabolic activity. Many dynamic rsfMRI studies have demonstrated differences between clinical or behavioral groups beyond what static rsfMRI measured, suggesting a neurometabolic basis...
September 9, 2017: NeuroImage
https://www.readbyqxmd.com/read/28885847/regulation-of-reduced-folate-carrier-rfc-by-vitamin-d-receptor-at-the-blood-brain-barrier
#18
Camille Alam, Md Tozammel Hoque, Richard H Finnell, I David Goldman, Reina Bendayan
Folates are essential for brain development and function. Folate transport in mammalian tissues is mediated by three major folate transport systems, i.e., reduced folate carrier (RFC), proton-coupled folate transporter (PCFT), and folate receptor alpha (FRα), known to be regulated by ligand-activated nuclear receptors, such as vitamin D receptor (VDR). Folate uptake at the choroid plexus, which requires the actions of both FRα and PCFT, is critical to cerebral folate delivery. Inactivating FRα or PCFT mutations cause severe cerebral folate deficiency resulting in early childhood neurodegeneration...
November 6, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28883876/metabolic-screening-in-children-with-neurodevelopmental-delay-seizure-and-or-regression
#19
Parvaneh Karimzadeh, Mohammad Mahdi Taghdiri, Ezatollah Abasi, Masoud Hassanvand Amouzadeh, Zhila Naghavi, Ahad Ghazavi, Mohammad Mahdi Nasehi, Abbas Alipour
OBJECTIVE: Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children. MATERIALS & METHODS: Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28827360/coupling-between-d-3-phosphoglycerate-dehydrogenase-and-d-2-hydroxyglutarate-dehydrogenase-drives-bacterial-l-serine-synthesis
#20
Wen Zhang, Manman Zhang, Chao Gao, Yipeng Zhang, Yongsheng Ge, Shiting Guo, Xiaoting Guo, Zikang Zhou, Qiuyuan Liu, Yingxin Zhang, Cuiqing Ma, Fei Tao, Ping Xu
l-Serine biosynthesis, a crucial metabolic process in most domains of life, is initiated by d-3-phosphoglycerate (d-3-PG) dehydrogenation, a thermodynamically unfavorable reaction catalyzed by d-3-PG dehydrogenase (SerA). d-2-Hydroxyglutarate (d-2-HG) is traditionally viewed as an abnormal metabolite associated with cancer and neurometabolic disorders. Here, we reveal that bacterial anabolism and catabolism of d-2-HG are involved in l-serine biosynthesis in Pseudomonas stutzeri A1501 and Pseudomonas aeruginosa PAO1...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
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