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Carnitine deficiency

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https://www.readbyqxmd.com/read/29139026/structural-elucidation-of-novel-biomarkers-of-known-metabolic-disorders-based-on-multistage-fragmentation-mass-spectra
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
August 28, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28993647/usefulness-of-kidney-slices-for-functional-analysis-of-apical-reabsorptive-transporters
#9
Hiroshi Arakawa, Ikumi Washio, Natsumi Matsuoka, Hikaru Kubo, Angelina Yukiko Staub, Noritaka Nakamichi, Naoki Ishiguro, Yukio Kato, Takeo Nakanishi, Ikumi Tamai
Kidney plays a key role in the elimination and reabsorption of drugs and nutrients, however in vitro methods to evaluate renal disposition are limited. In the present study, we investigated usefulness of isolated kidney slice, which had been used for transport only at basolateral membrane of tubular epithelial cells, for evaluation of apical membrane transporters. As transporters that are easy to discriminate between apical and basolateral transports, apical membrane specific and sodium-dependent transporters (SGLTs and OCTNs) and pH-dependent transporters (PEPTs) are selected...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28961260/biochemical-phenotyping-unravels-novel-metabolic-abnormalities-and-potential-biomarkers-associated-with-treatment-of-glut1-deficiency-with-ketogenic-diet
#10
Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea
Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, movement disorders, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting...
2017: PloS One
https://www.readbyqxmd.com/read/28955988/carnitine-acetyltransferase-a-new-player-in-skeletal-muscle-insulin-resistance
#11
Sofia Mikkelsen Berg, Henning Beck-Nielsen, Nils Joakim Færgeman, Michael Gaster
Carnitine acetyltransferase (CRAT) deficiency has previously been shown to result in muscle insulin resistance due to accumulation of long-chain acylcarnitines. However, differences in the acylcarnitine profile and/or changes in gene expression and protein abundance of CRAT in myotubes obtained from obese patients with type 2 diabetes mellitus (T2DM) and glucose-tolerant obese and lean controls remain unclear. The objective of the study was to examine whether myotubes from obese patients with T2DM express differences in gene expression and protein abundance of CRAT and in acylcarnitine species pre-cultured under glucose and insulin concentrations similar to those observed in healthy individuals in the over-night fasted, resting state...
March 2017: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28932990/treatment-opportunities-in-patients-with-metabolic-myopathies
#12
REVIEW
Mette Cathrine Ørngreen, John Vissing
Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described. Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options...
September 21, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28927828/fatty-acid-oxidation-defects-presenting-as-primary-myopathy-and-prominent-dropped-head-syndrome
#13
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Rita Christopher, Narayanappa Gayathri, Archana Natarajan, Mahadevappa Manjunath, Saraswati Nashi, Chandrajit Prasad, Atchayaram Nalini
Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here...
November 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28923496/deficiency-of-the-mitochondrial-nad-kinase-causes-stress-induced-hepatic-steatosis-in-mice
#14
Kezhong Zhang, Hyunbae Kim, Zhiyao Fu, Yining Qiu, Zhao Yang, Jiemei Wang, Deqiang Zhang, Xin Tong, Lei Yin, Jing Li, Jianmei Wu, Nathan R Qi, Sander M Houten, Ren Zhang
BACKGROUND & AIMS: The mitochondrial nicotinamide adenine dinucleotide (NAD) kinase (NADK2, also called MNADK) catalyzes phosphorylation of NAD to yield NADP. Little is known about the functions of mitochondrial NADP and MNADK in liver physiology and pathology. We investigated the effects of reduced mitochondrial NADP by deleting MNADK in mice. METHODS: We generated MNADK-knockout (KO) mice on a C57BL/6NTac background; mice with a wild-type Mnadk gene were used as controls...
September 15, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28916721/loss-of-cardiac-carnitine-palmitoyltransferase-2-results-in-rapamycin-resistant-acetylation-independent-hypertrophy
#15
Andrea S Pereyra, Like Y Hasek, Kate L Harris, Alycia G Berman, Frederick W Damen, Craig J Goergen, Jessica M Ellis
Cardiac hypertrophy is closely linked to impaired fatty acid oxidation, but the molecular basis of this link is unclear. Here, we investigated the loss of an obligate enzyme in mitochondrial long-chain fatty acid oxidation, carnitine palmitoyltransferase 2 (CPT2), on muscle and heart structure, function, and molecular signatures in a muscle- and heart-specific CPT2-deficient mouse (Cpt2M-/-) model. CPT2 loss in heart and muscle reduced complete oxidation of long-chain fatty acids by 87% and 69%, respectively, without altering body weight, energy expenditure, respiratory quotient, or adiposity...
September 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28915573/lipid-catabolism-inhibition-sensitizes-prostate-cancer-cells-to-antiandrogen-blockade
#16
Thomas W Flaig, Maren Salzmann-Sullivan, Lih-Jen Su, Zhiyong Zhang, Molishree Joshi, Miguel A Gijón, Jihye Kim, John J Arcaroli, Adrie Van Bokhoven, M Scott Lucia, Francisco G La Rosa, Isabel R Schlaepfer
Prostate cancer (PCa) is the most common malignancy among Western men and the second leading-cause of cancer related deaths. For men who develop metastatic castration resistant PCa (mCRPC), survival is limited, making the identification of novel therapies for mCRPC critical. We have found that deficient lipid oxidation via carnitine palmitoyltransferase (CPT1) results in decreased growth and invasion, underscoring the role of lipid oxidation to fuel PCa growth. Using immunohistochemistry we have found that the CPT1A isoform is abundant in PCa compared to benign tissue (n=39, p<0...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28914566/a-novel-etfdh-mutation-in-an-adult-patient-with-late-onset-riboflavin-responsive-multiple-acyl-coa-dehydrogenase-deficiency
#17
Min Chen, Jing Peng, Wei Wei, Wang, Hongliang Xu, Hongbo Liu
We report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by muscle weakness and hypoglycemia as main clinical presentation. At the age of 34 years, the patient experienced progressive muscle weakness and short of breath. Blood creatine kinase level was significantly higher than normal. The blood glucose was significantly lower than normal. The muscle biopsy revealed lipid storage myopathy...
September 15, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28871440/triheptanoin-versus-trioctanoin-for-long-chain-fatty-acid-oxidation-disorders-a-double-blinded-randomized-controlled-trial
#18
Melanie B Gillingham, Stephen B Heitner, Julie Martin, Sarah Rose, Amy Goldstein, Areeg Hassan El-Gharbawy, Stephanie Deward, Michael R Lasarev, Jim Pollaro, James P DeLany, Luke J Burchill, Bret Goodpaster, James Shoemaker, Dietrich Matern, Cary O Harding, Jerry Vockley
BACKGROUND: Observational reports suggest that supplementation that increases citric acid cycle intermediates via anaplerosis may have therapeutic advantages over traditional medium-chain triglyceride (MCT) treatment of long-chain fatty acid oxidation disorders (LC-FAODs) but controlled trials have not been reported. The goal of our study was to compare the effects of triheptanoin (C7), an anaplerotic seven-carbon fatty acid triglyceride, to trioctanoin (C8), an eight-carbon fatty acid triglyceride, in patients with LC-FAODs...
November 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28866892/plasma-l-carnitine-levels-in-terminally-ill-cancer-patients-receiving-only-palliative-care
#19
Akiyuki Sakamoto, Yoshiko Tsukahara, Daisuke Gomi, Toshirou Fukushima, Takashi Kobayashi, Hirohide Matsushita, Nodoka Sekiguchi, Keiko Mamiya, Tomonobu Koizumi
BACKGROUND: Several studies indicated that plasma L-carnitine (LC) levels are significantly decreased during chemotherapy or chemoradiation and that LC supplementation can improve the fatigue score in some cancer patients. However, the LC levels in end-stage cancer patients treated only with palliative care remained unclear. The present study was performed to examine the plasma LC levels of terminally ill and hospitalized patients. METHODS: Twenty-one terminally ill cancer patients in our hospital, with expected survival of several months, were enrolled in the present study...
August 2017: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/28862145/expanded-newborn-metabolic-screening-programme-in-hong-kong-a-three-year-journey
#20
S C Chong, L K Law, J Hui, C Y Lai, T Y Leung, Y P Yuen
INTRODUCTION: No universal expanded newborn screening service for inborn errors of metabolism is available in Hong Kong despite its long history in developed western countries and rapid development in neighbouring Asian countries. To increase the local awareness and preparedness, the Centre of Inborn Errors of Metabolism of the Chinese University of Hong Kong started a private inborn errors of metabolism screening programme in July 2013. This study aimed to describe the results and implementation of this screening programme...
October 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
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