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Carnitine deficiency

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https://www.readbyqxmd.com/read/29286927/carnitine-deficiency-in-preterm-infants-a-national-survey-of-knowledge-and-practices
#1
M A Clark, R E K Stein, Ellen J Silver, Sabeen Khalid, M Fuloria, N V Esteban-Cruciani
OBJECTIVE: Lipid supplementation improves developmental outcomes in preterm infants. Carnitine is essential for lipid metabolism; however, despite high risk for carnitine deficiency, there are no standards for carnitine supplementation in preterm infants receiving total parenteral nutrition (TPN). Our objective was to assess knowledge, beliefs and practices regarding preterm carnitine deficiency and supplementation among neonatal practitioners. METHODS: Cross-sectional electronic survey administered via a nationally representative listserv of neonatal practitioners...
2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/29234986/exertional-rhabdomyolysis-leading-to-acute-kidney-injury-when-genetic-defects-are-diagnosed-in-adult-life
#2
David Cucchiari, Irene Colombo, Ottavia Amato, Manuel Alfredo Podestà, Francesco Reggiani, Rossella Valentino, Irene Faravelli, Silvia Testolin, Maurizio Moggio, Salvatore Badalamenti
Rhabdomyolysis is a common cause of acute kidney injury (AKI) that is usually triggered by trauma. However, less common causes of rhabdomyolysis may precipitate AKI as well, possibly representing a diagnostic challenge even for the experienced nephrologist. Genetic defects of muscle metabolism represent one of these causes and can be overlooked in adults, since these diseases usually become apparent in childhood. We present here a case in which an adult patient with severe exertional rhabdomyolysis leading to AKI was finally diagnosed with a genetic defect of lipid metabolism...
December 12, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29228356/dietary-intervention-rescues-myopathy-associated-with-neurofibromatosis-type-1
#3
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate Gr Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
December 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29226520/a-novel-homozygous-slc25a1-mutation-with-impaired-mitochondrial-complex-v-possible-phenotypic-expansion
#4
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29225006/mechanistic-studies-on-ketamine-induced-mitochondrial-toxicity-in-zebrafish-embryos
#5
Bonnie L Robinson, Melanie Dumas, Syed F Ali, Merle G Paule, Qiang Gu, Jyotshna Kanungo
Ketamine, a phencyclidine derivative, is an antagonist of the Ca2+-permeable N-methyl-d-aspartate (NMDA)-type glutamate receptors. It is a pediatric anesthetic and has been implicated in developmental neurotoxicity. Ketamine has also been shown to deplete ATP in mammalian cells. Our previous studies showed that acetyl l-carnitine (ALCAR) prevented ketamine-induced cardiotoxicity and neurotoxicity in zebrafish embryos. Based on our finding that ALCAR's protective effect was blunted by oligomycin A, an inhibitor of ATP synthase, we further investigated the effects of ketamine and ALCAR on ATP levels, mitochondria and ATP synthase in zebrafish embryos...
December 7, 2017: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/29204204/thiamine-responsive-pyruvate-dehydrogenase-complex-deficiency-a-potentially-treatable-cause-of-leigh-s-disease
#6
Prashant Jauhari, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. PDHA1 gene sequencing revealed a pathological homozygous missense mutation c.131A>G or p.H44R in exon 3 consistent with PDHC deficiency. H44R is among the five mutations (H44R, R88S, G89S, R263G, and V389fs) in E1α subunit that is thiamine-responsive...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29198778/dilated-cardiomyopathy-with-short-qt-interval-suggests-primary-carnitine-deficiency
#7
Francesca Perin, María Del Mar Rodríguez-Vázquez Del Rey, Carmen Carreras-Blesa, Luisa Arrabal-Fernández, Juan Jiménez-Jáimez, Luis Tercedor
No abstract text is available yet for this article.
November 30, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29184760/rhabdomyolysis-with-different-etiologies-in-childhood
#8
Demet Alaygut, Meral Torun Bayram, Belde Kasap, Alper Soylu, Mehmet Türkmen, Salih Kavukcu
AIM: To investigate different etiologies and management of the rhabdomyolysis in children. METHODS: Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment...
November 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/29176728/similarities-between-acylcarnitine-profiles-in-large-for-gestational-age-newborns-and-obesity
#9
Paula Sánchez-Pintos, Maria-Jose de Castro, Iria Roca, Segundo Rite, Miguel López, Maria-Luz Couce
Large for gestational age (LGA) newborns have an increased risk of obesity, insulin resistance, and metabolic syndrome. Acylcarnitine profiles in obese children and adults are characterized by increased levels of C3, C5, and certain medium-chain (C12) and long-chain (C14:1 and C16) acylcarnitines. C2 is also increased in insulin-resistant states. In this 1-year observational study of 2514 newborns (246 LGA newborns, 250 small for gestational age (GA) newborns, and 2018 appropriate for GA newborns), we analyzed and compared postnatal acylcarnitine profiles in LGA newborns with profiles described for obese individuals...
November 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29165532/relationship-of-serum-carnitine-level-with-falls-and-gait-disturbance-in-the-elderly
#10
K Nagai, H Koshiba, S Shibata, A Hirasawa, T Ebihara, K Kozaki
BACKGROUND: Gait disturbance and falls are serious events that can impair activities of daily living (ADL) in the elderly. On the other hand, carnitine plays essential roles in energy production, and carnitine deficiency leads to low activity levels. OBJECTIVES: We examined whether a lower serum carnitine concentration was correlated with falls and gait disturbances in the elderly. DESIGN, SETTING, AND PARTICIPANTS: We performed a cross-sectional study...
2017: Journal of Frailty & Aging
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#11
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29153022/-rhabdomyolysis-may-it-be-a-metabolic-myopathy-case-report-and-diagnostic-algorithm
#12
Ágnes Sebők, Endre Pál, Gergő Attila Molnár, István Wittmann, Judit Berenténé Bene, Béla Melegh, Sámuel Komoly, Tibor Hidvégi, Lídia Balogh, Attila Szabó, Petra Zsidegh
We report the case of a 46-year-old female patient with recurrent rhabdomyolysis. In the background of her metabolic myopathy an inherited metabolic disorder of the fatty acid oxidation, very long-chain acyl-coenzyme A-dehydrogenase deficiency was diagnosed. The diagnosis was based on abnormal acyl-carnitine- and urine organic-acid profile in addition to low residual enzyme activity, and was confirmed by genetic testing. After introduction of dietotherapy metabolic crisis necessitating hospital admission has not occurred neither have fixed myopathic changes developed...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29139026/structural-elucidation-of-novel-biomarkers-of-known-metabolic-disorders-based-on-multistage-fragmentation-mass-spectra
#13
Jan Václavík, Karlien L M Coene, Ivo Vrobel, Lukáš Najdekr, David Friedecký, Radana Karlíková, Lucie Mádrová, Aleksanteri Petsalo, Udo F H Engelke, Annemiek van Wegberg, Leo A J Kluijtmans, Tomáš Adam, Ron A Wevers
Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. This is a proof-of-concept study testing this methodology to determine the molecular structure of as yet uncharacterized m/z signals that were significantly increased in plasma samples from patients with phenylketonuria and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency...
November 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29137068/carnitine-acylcarnitine-translocase-deficiency-with-c-199-10-t-g-and-novel-c-1a-g-mutation-two-case-reports-and-brief-literature-review
#14
Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang
RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.1A>G mutation in the SLC25A20 gene has never been described...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29132460/-genetic-diagnosis-of-10-neonates-with-primary-carnitine-deficiency
#15
Jian-Qiang Tan, Da-Yu Chen, Zhe-Tao Li, Ti-Zhen Yan, Ji-Wei Huang, Ren Cai
OBJECTIVE: To study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD. METHODS: Acylcarnitine profile analysis was performed by tandem mass spectrometry using 34 167 dry blood spots on filter paper. The SLC22A5 gene was sequenced and analyzed in neonates with free carnitine (C0) levels lower than 10 μmol/L as well as their parents...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29124685/mitochondrial-trifunctional-protein-deficiency-severe-cardiomyopathy-and-cardiac-transplantation
#16
C Bursle, R Weintraub, C Ward, R Justo, J Cardinal, D Coman
We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function...
November 10, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29112178/efficacy-and-effectiveness-of-carnitine-supplementation-for-cancer-related-fatigue-a-systematic-literature-review-and-meta-analysis
#17
REVIEW
Wolfgang Marx, Laisa Teleni, Rachelle S Opie, Jaimon Kelly, Skye Marshall, Catherine Itsiopoulos, Elizabeth Isenring
BACKGROUND: Carnitine deficiency has been implicated as a potential pathway for cancer-related fatigue that could be treated with carnitine supplementation. The aim of this systematic literature review and meta-analysis was to evaluate the literature regarding the use of supplemental carnitine as a treatment for cancer-related fatigue. METHODS: Using the PRISMA guidelines, an electronic search of the Cochrane Library, MEDLINE, Embase, CINAHL and reference lists was conducted...
November 7, 2017: Nutrients
https://www.readbyqxmd.com/read/29076953/acetyl-l-carnitine-supplementation-and-the-treatment-for-depressive-symptoms-a-systematic-review-and-meta-analysis
#18
Nicola Veronese, Brendon Stubbs, Marco Solmi, Olesya Ajnakina, Andre F Carvalho, Stefania Maggi
OBJECTIVE: Deficiency of acetyl-L-carnitine (ALC) appears to play a role in the risk of developing depression, indicating dysregulation of fatty acids transport across the inner membrane of mitochondria. However, the data regarding ALC supplementation in humans are limited.. We thus conducted a systematic review and meta-analysis investigating the effect of ALC on depressive symptoms across randomized controlled trials (RCTs). METHODS: A literature search in major databases, without language restriction, was undertaken from inception until 30 December 2016...
October 25, 2017: Psychosomatic Medicine
https://www.readbyqxmd.com/read/29039165/-screening-for-fatty-acid-oxidation-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#19
Jing Zheng, Yu Zhang, Fang Hong, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao, Xinwen Huang
OBJECTIVE: To screen fatty acid oxidation disorders (FAOD) in newborns in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for FAOD in Neonatal Screening Center of Zhejiang Province during January 2009 and December 2016. The blood samples from newborns were screened by tandem mass spectrometry, and diagnosis of FAOD was confirmed by urine organic acid measurement combined with genetic analysis. The prognosis and follow-up of patients with FAOD were also evaluated...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29025010/sperm-function-protein-phosphorylation-and-metabolism-differ-in-mice-lacking-successive-sperm-specific-glycolytic-enzymes
#20
Zaohua Huang, Polina V Danshina, Kathleen Mohr, Weidong Qu, Summer G Goodson, Thomas M O'Connell, Deborah A O'Brien
Glyceraldehyde 3-phosphate dehydrogenase-S (GAPDHS) and phosphoglycerate kinase 2 (PGK2), two isozymes restricted to the male germline, catalyze successive steps in the glycolytic pathway in mammalian sperm. Although gene targeting of each isozyme demonstrated that glycolysis is required for normal sperm motility and male fertility, the phenotype of mice lacking GAPDHS is more severe than that of mice lacking PGK2. This study examined sperm function, signaling pathways, and metabolism to investigate factors that contribute to the phenotypic differences between these knockout models...
October 1, 2017: Biology of Reproduction
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