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Neurometabolic diseases

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https://www.readbyqxmd.com/read/29779173/long-lasting-high-lysine-diet-aggravates-white-matter-injury-in-glutaryl-coa-dehydrogenase-deficient-gcdh-mice
#1
Silvia Olivera-Bravo, Bianca Seminotti, Eugenia Isasi, César A Ribeiro, Guilhian Leipnitz, Michael Woontner, Stephen I Goodman, Diogo Souza, Luis Barbeito, Moacir Wajner
Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. GA-I patients typically develop encephalopatic crises with striatal degeneration and progressive white matter defects. However, late onset patients as well as Gcdh-/- mice only suffer diffuse myelinopathy, suggesting that neuronal death and white matter defects are different pathophysiological events...
May 19, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#2
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29739804/etiology-and-treatment-of-adrenoleukodystrophy-new-insights-from-drosophila
#3
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/29735120/movement-disorders-and-neurometabolic-diseases
#4
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29686941/adult-onset-generalized-dystonia-as-the-main-manifestation-of-megdel-syndrome
#5
Camille Giron, Emmanuel Roze, Bertrand Degos, Aurélie Méneret, Claude Jardel, Annie Lannuzel, Fanny Mochel
Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29668904/a-whole-brain-longitudinal-study-in-the-yac128-mouse-model-of-huntington-s-disease-shows-distinct-trajectories-of-neurochemical-structural-connectivity-and-volumetric-changes
#6
Lorena I Petrella, João M Castelhano, Mario Ribeiro, José V Sereno, Sónia I Gonçalves, Mário N Laço, Michael R Hayden, Ana C Rego, Miguel Castelo-Branco
Huntington's disease (HD) is a neurodegenerative disorder causing cognitive and motor impairments, evolving to death within 15-20 years after symptom onset. We previously established a mouse model with the entire human HD gene containing 128 CAG repeats (YAC128) which accurately recapitulates the natural history of the human disease. Defined time points in this natural history enable the understanding of longitudinal trajectories from the neurochemical and structural points of view using non-invasive high-resolution multimodal imaging...
April 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29668537/cerebral-sinus-venous-thrombosis-and-prothrombotic-risk-factors-in-children-a-single-center-experience-from-turkey
#7
Alper Ozcan, Mehmet Canpolat, Selim Doganay, Ekrem Unal, Musa Karakukcu, Mehmet A Ozdemir, Turkan Patiroglu
BACKGROUND: Cerebral sinus venous thrombosis (CSVT) is a rare cerebrovascular disease that may be life-threatening, especially in children. OBJECTIVE: The purpose of this study was to assess the clinical presentation, radiologic imaging, underlying conditions, treatment, and outcomes of children with CSVT. PATIENTS AND METHODS: In total, 23 consecutive children aged between 1 month to 18 years with CSVT, who were followed-up in Erciyes University Children's Hospital, were retrospectively enrolled in the study from January 2000 to December 2016...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29594647/pregnancy-management-and-outcome-in-patients-with-four-different-tetrahydrobiopterin-disorders
#8
O Kuseyri, A Weissbach, N Bruggemann, C Klein, M Giżewska, D Karall, S Scholl-Bürgi, H Romanowska, E Krzywińska-Zdeb, A A Monavari, I Knerr, Z Yapıcı, V Leuzzi, T Opladen
INTRODUCTION: Inborn errors of tetrahydrobiopterin (BH4 ) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing awareness and improved availability of drug treatment the number of patients with BH4 disorders reaching adulthood is constantly increasing. Pregnancy care of patients with these disorders is therefore a new challenge for clinicians. METHODS: This retrospective study summarises for the first time clinical and biochemical monitoring data of 16 pregnancies in seven women with different disorders of BH4 metabolism and evaluates treatment regimens before and during pregnancy in relation to the obstetrical outcome and paediatric follow-up...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29547829/atypical-pyridoxine-dependent-epilepsy-resulting-from-a-new-homozygous-missense-mutation-in-aldh7a1
#9
Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29537900/anthropometrics-and-body-composition-in-adults-with-high-grade-gliomas-effects-of-disease-related-variables
#10
Simona Bertoli, Alberto Battezzati, Alessandra Petruzzi, Alessandro Leone, Ramona De Amicis, Elena Tramacere, Maddalena Meda, Andrea Foppiani, Antonio Silvani, Elena Lamperti
Nutritional status in adults with high-grade gliomas (HGGs) has been poorly investigated. We studied anthropometrics and fat mass (FM), fat free mass (FFM), and body water in HGGs patients also in relation to disease-related variables. Fifty-one patients (17 III and 34 IV-grade) and fifty-one control group (CG) matched for sex, age, and BMI were enrolled. Neurological scales, anthropometry, bioimpedance, and blood sampling were performed and analyzed according to grade, lesion location, extent of resection, phase of treatment, current steroids and antiepileptic therapy, and age of patient...
March 14, 2018: Nutrition and Cancer
https://www.readbyqxmd.com/read/29536202/multiomics-tools-for-the-diagnosis-and-treatment-of-rare-neurological-disease
#11
REVIEW
L M Crowther, M Poms, Barbara Plecko
Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unidentified or underreported causes of rare neurological disease. This would result in a higher diagnostic yield and increased patient numbers required for interventional studies. Recent studies using next-generation sequencing and metabolomics have led to identification of novel disease-causing genes and biomarkers...
March 13, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29524021/focus-on-fatty-acids-in-the-neurometabolic-pathophysiology-of-psychiatric-disorders
#12
REVIEW
R J T Mocking, J Assies, H G Ruhé, A H Schene
Continuous research into the pathophysiology of psychiatric disorders, such as major depressive disorder (MDD), posttraumatic stress disorder (PTSD), and schizophrenia, suggests an important role for metabolism. This narrative review will provide an up-to-date summary of how metabolism is thought to be involved in the pathophysiology of these psychiatric disorders. We will focus on (I) the important role of fatty acids in these metabolic alterations, (II) whether fatty acid alterations represent epiphenomena or risk factors, and (III) similarities and dissociations in fatty acid alterations between different psychiatric disorders...
March 9, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29520330/advances-in-treatment-of-wilson-disease
#13
REVIEW
Annu Aggarwal, Mohit Bhatt
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29519314/hypotensive-and-neurometabolic-effects-of-intragastric-reishi-ganoderma-lucidum-administration-in-hypertensive-isiah-rat-strain
#14
Oleg B Shevelev, Alisa A Seryapina, Evgenii L Zavjalov, Lyudmila A Gerlinskaya, Tatiana N Goryachkovskaya, Nikolay M Slynko, Leonid V Kuibida, Sergey E Peltek, Arcady L Markel, Mikhail P Moshkin
BACKGROUND: As the standard clinically used hypotensive medicines have many undesirable side effects, there is a need for new therapeutic agents, especially ones of a natural origin. PURPOSE: One possible candidate is extract from the mushroom Reishi (Ganoderma lucidum), which is used in the treatment and prevention of many chronic diseases. STUDY DESIGN AND METHODS: To study the effectiveness of Reishi, which grows in the Altai Mountains, as an antihypertensive agent, we intragastrically administered Reishi water extract to adult male hypertensive ISIAH (inherited stress-induced arterial hypertension) rats...
March 1, 2018: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/29500423/metabolic-reprogramming-in-amyotrophic-lateral-sclerosis
#15
M Szelechowski, N Amoedo, E Obre, C Léger, L Allard, M Bonneu, S Claverol, D Lacombe, S Oliet, S Chevallier, G Le Masson, R Rossignol
Mitochondrial dysfunction in the spinal cord is a hallmark of amyotrophic lateral sclerosis (ALS), but the neurometabolic alterations during early stages of the disease remain unknown. Here, we investigated the bioenergetic and proteomic changes in ALS mouse motor neurons and patients' skin fibroblasts. We first observed that SODG93A mice presymptomatic motor neurons display alterations in the coupling efficiency of oxidative phosphorylation, along with fragmentation of the mitochondrial network. The proteome of presymptomatic ALS mice motor neurons also revealed a peculiar metabolic signature with upregulation of most energy-transducing enzymes, including the fatty acid oxidation (FAO) and the ketogenic components HADHA and ACAT2, respectively...
March 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29476661/epigenomic-signature-of-adrenoleukodystrophy-predicts-compromised-oligodendrocyte-differentiation
#16
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/29458334/identification-of-novel-l2hgdh-mutation-in-a-large-consanguineous-pakistani-family-a-case-report
#17
Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L Baple, Andrew H Crosby, Barry A Chioza
BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits. CASE PRESENTATION: We describe an index case of the family presented with generalised tonic-clonic seizure, developmental delay, intellectual disability, and ataxia...
February 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29411290/experimental-evidence-that-in-vivo-intracerebral-administration-of-l-2-hydroxyglutaric-acid-to-neonatal-rats-provokes-disruption-of-redox-status-and-histopathological-abnormalities-in-the-brain
#18
Rafael Teixeira Ribeiro, Ângela Zanatta, Alexandre Umpierrez Amaral, Guilhian Leipnitz, Francine Hehn de Oliveira, Bianca Seminotti, Moacir Wajner
Tissue accumulation of L-2-hydroxyglutaric acid (L-2-HG) is the biochemical hallmark of L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic inherited disease characterized by neurological symptoms and brain white matter abnormalities whose pathogenesis is not yet well established. L-2-HG was intracerebrally administered to rat pups at postnatal day 1 (P1) to induce a rise of L-2-HG levels in the central nervous system (CNS). Thereafter, we investigated whether L-2-HG in vivo administration could disturb redox homeostasis and induce brain histopathological alterations in the cerebral cortex and striatum of neonatal rats...
April 2018: Neurotoxicity Research
https://www.readbyqxmd.com/read/29368186/protection-before-impact-the-potential-neuroprotective-role-of-nutritional-supplementation-in-sports-related-head-trauma
#19
REVIEW
Jonathan M Oliver, Anthony J Anzalone, Stephanie M Turner
Even in the presence of underreporting, sports-related concussions/mild traumatic brain injuries (mTBI) are on the rise. In the absence of proper diagnosis, an athlete may return to play prior to full recovery, increasing the risk of second-impact syndrome or protracted symptoms. Recent evidence has demonstrated that sub-concussive impacts, those sustained routinely in practice and competition, result in a quantifiable pathophysiological response and the accumulation of both concussive and sub-concussive impacts sustained over a lifetime of sports participation may lead to long-term neurological impairments and an increased risk of developing neurodegenerative diseases...
January 24, 2018: Sports Medicine
https://www.readbyqxmd.com/read/29358550/amalaki-rasayana-improved-memory-and-neuronal-metabolic-activity-in-abpp-ps1-mouse-model-of-alzheimer-s-disease
#20
Vivek Tiwari, Kamal Saba, Pandichelvam Veeraiah, Jedy Jose, Subhash C Lakhotia, Anant B Patel
Alzheimer's disease (AD) is the most common neurodegenerative disorder characterized by progressive loss of memory and cognitive function. The cerebral metabolic rate of glucose oxidation has been shown to be reduced in AD. The present study evaluated efficacy of dietary Amalaki Rasayana (AR), an Ayurvedic formulation used in Indian traditional system, in AbPP-PS1 mouse model of AD in ameliorating memory and neurometabolism, and compared with donepezil, a standard FDA approved drug for AD. The memory of mice was measured using Morris Water Maze analysis...
September 2017: Journal of Biosciences
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