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Carnitine deficiency

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https://www.readbyqxmd.com/read/28535199/genotype-phenotype-correlation-in-patients-with-isovaleric-acidemia-comparative-structural-modelling-and-computational-analysis-of-novel-variants
#1
Osama K Zaki, George Priya Doss C, Salsabil A Ali, Ghadeer G Murad, Shaima A Elashi, Maryam Sa Ebnou, D Thirumal Kumar, Ola Khalifa, Radwa Gamal, Heba S A El Abd, Bilal N Nasr, Hatem Zayed
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients diagnoses were confirmed by urinary organic acid analysis and the blood C5-Carnitine value. A molecular genetic analysis of the IVD gene revealed nine different variants: five were missense variants (c.1193G>A; p. R398Q, c.1207T>A; p. Y403N, c.872C>T; p...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28529889/a-surviving-24-month-old-patient-with-neonatal-onset-carnitine-palmitoyltransferase-ii-deficiency
#2
Naohiro Ikeda, Shinsuke Maruyama, Kanna Nakano, Ryo Imakiire, Yumiko Ninomiya, Shunji Seki, Kosuke Yanagimoto, Yasuyuki Kakihana, Keiichi Hara, Go Tajima, Yasuhiro Okamoto, Yoshifumi Kawano
The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28516040/a-newborn-case-with-carnitine-palmitoyltransferase-ii-deficiency-initially-judged-as-unaffected-by-acylcarnitine-analysis-soon-after-birth
#3
Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Yuki Hasegawa, Mako Ago, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani
Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via normal vaginal delivery; his elder sister was affected with CPT-2 deficiency. Acylcarnitine (AC) was analyzed in both dried blood spots (DBS) and serum 2 h after birth to determine whether the boy was also affected. His C16 and C18:1 AC levels in DBS were in the normal range, while his serum long-chain AC levels were marginally increased but lower than those of his sister...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28515388/nitric-oxide-is-critical-for-avoiding-hepatic-lipid-overloading-via-il6-induction-during-liver-regeneration-after-partial-hepatectomy-in-mice
#4
Yue Yu, Miho Tamai, Yoh-Ichi Tagawa
Nitric oxide (NO), generated from L-arginine by three different isoforms of nitric oxide synthase (NOS), is a pleiotropic factor to regulate physiological functions in almost every organ and tissue. Each knockout mouse of iNOS or eNOS has been used to suggest that NO has a crucial role in liver regeneration after partial hepatectomy (PH), for NO may inhibit caspase 3 activity and is required for EGFR signaling. In previous reports, defective mitochondrial β-oxidation was observed in eNOS KO mice, and hepatic steatosis was often correlated to deficient liver regeneration, so we focused on metabolic perspective and hypothesized that NO depletion in PH mice would affect hepatocytic lipolysis and impair hepatocytes proliferation...
May 18, 2017: Experimental Animals
https://www.readbyqxmd.com/read/28507011/influence-of-diet-in-multiple-sclerosis-a-systematic-review
#5
REVIEW
M José Bagur, M Antonia Murcia, Antonia M Jiménez-Monreal, Josep A Tur, M Mar Bibiloni, Gonzalo L Alonso, Magdalena Martínez-Tomé
Nutrition is considered to be a possible factor in the pathogenesis of the neurological disease multiple sclerosis (MS). Nutrition intervention studies suggest that diet may be considered as a complementary treatment to control the progression of the disease; a systematic review of the literature on the influence of diet on MS was therefore conducted. The literature search was conducted by using Medlars Online International Literature (MEDLINE) via PubMed and Scopus. Forty-seven articles met the inclusion criteria...
May 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#6
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28473655/lipid-catabolism-inhibition-sensitizes-prostate-cancer-cells-to-antiandrogen-blockade
#7
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...
April 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28472467/hypothalamic-regulation-of-liver-and-muscle-nutrient-partitioning-by-brain-specific-carnitine-palmitoyltransferase-1c-cpt1c-in-male-mice
#8
Macarena Pozo, Rosalía Rodríguez-Rodríguez, Sara Ramírez, Patricia Seoane-Collazo, Miguel López, Dolors Serra, Laura Herrero, Núria Casals
Carnitine palmitoyltransferase 1C (CPT1C), a brain-specific protein localized in the endoplasmic reticulum of neurons, is expressed in almost all brain regions. Based on global knockout (KO) models, CPT1C has demonstrated relevance in hippocampus-dependent spatial learning as well as in hypothalamic regulation of energy balance. Specifically, it has been shown that CPT1C is protective against high-fat diet-induced obesity (DIO), and that CPT1C KO mice show reduced peripheral fatty acid oxidation (FAO) both during fasting and DIO...
May 3, 2017: Endocrinology
https://www.readbyqxmd.com/read/28466427/carnitine-palmitoyltransferase-1a-deficiency-abnormal-muscle-biopsy-findings-in-a-child-presenting-with-reye-s-syndrome
#9
M Bellusci, P Quijada-Fraile, D Barrio-Carreras, E Martin-Hernandez, M Garcia-Silva, B Merinero, B Perez, A Hernandez-Lain
No abstract text is available yet for this article.
May 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28456887/heterogeneous-phenotypes-in-lipid-storage-myopathy-due-to-etfdh-gene-mutations
#10
Corrado Angelini, Daniela Tavian, Sara Missaglia
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine or riboflavin, leading to a full recovery. In our patients, a combination of precipitating risk factors including previous anorexia, alcoholism, poor nutrition, and pregnancy contributed to a metabolic critical condition that precipitated the catabolic state...
April 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28452736/-action-of-l-carnitine-corvitin-and-their-combination-on-functional-state-of-liver-in-experimental-model-of-reye-syndrome-in-rats
#11
M Ghonghadze, N Antelava, K Liluashvili, M Okujava, K Pachkoria
Administration of Aacetylsalicylic acid in children with viral infections (influence B, chickenpox) can be related with development of Reye syndrome - severe encephalopathy and liver insufficiency with mortality in 50% of cases. During Reye syndrome most important is deficiency of carnitine and hepatocyte damage. Decreased amount of carnitine impairs the energy function of mitochondria and gluconeogenesis as well as production of urea. As a result develops toxic encephalopathy and liver insufficiency. The goal of the research was assessment of efficacy of L-Carnitine, Corvitin and their combination on functional state of liver in experimental model of Reye Syndrome in rats...
February 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28451408/incidence-of-carnitine-deficiency-in-patients-with-cancer-pain-a-pilot-study
#12
Kiyohiro Sakai, Hiromichi Matsuoka, Yoichi Ohtake, Chihiro Makimura, Hiroaki Izumi, Yoshihiko Fujita, Masatomo Otsuka, Junji Tsurutani, Kazuto Nishio, Kazuhiko Nakagawa, Atsuko Koyama
Carnitine deficiency is reportedly associated with increased pain sensation in diabetes mellitus and fibromyalgia, but the association between serum carnitine concentration and cancer pain has not been fully elucidated. We investigated the incidence of carnitine deficiency in patients with cancer pain, and examined the effect of the patients' demographic and clinical characteristics on pain intensity and carnitine deficiency. The serum carnitine concentration was measured in 50 patients with cancer pain receiving non-steroidal anti-inflammatory drugs, but not opioids...
March 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28397225/-clinical-features-and-genetic-analysis-of-a-case-with-carnitine-palmitoyltransferase-1a-deficiency
#13
Dong Cui, Yuhui Hu, Dan Shen, Gen Tang, Min Zhang, Jing Duan, Pengqiang Wen, Jianxiang Liao, Dongli Ma, Shuli Chen
OBJECTIVE: To analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency. METHODS: Clinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing. RESULTS: Analysis showed that the patient carried compound heterozygous mutations c...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28392417/pharmacological-inhibition-of-carnitine-palmitoyltransferase-1-restores-mitochondrial-oxidative-phosphorylation-in-human-trifunctional-protein-deficient-fibroblasts
#14
Bruno Lefort, Elodie Gouache, Cécile Acquaviva, Marine Tardieu, Jean François Benoist, Jean-François Dumas, Stéphane Servais, Stéphan Chevalier, Christine Vianey-Saban, François Labarthe
BACKGROUND: Mitochondrial Trifunctional Protein deficiency (TFPD) is a severe genetic disease characterized by altered energy metabolism and accumulation of long-chain (LC) acylcarnitines in blood and tissues. This accumulation could impair the mitochondrial oxidative phosphorylation (OxPhos), contributing to the non-optimal outcome despite conventional diet therapy with medium-chain triglycerides (MCT). METHOD: Acylcarnitine and OxPhos parameters were measured in TFPD-fibroblasts obtained from 8 children and cultured in medium mimicking fasting (LCFA) or conventional treatment (MCT), with or without Etomoxir (ETX) an inhibitor of carnitine palmitoyltransferase 1 (CPT1) activity, and were compared to results obtained with fibroblasts from 5 healthy-control children...
April 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28387447/withdrawn-interventions-for-fatigue-and-weight-loss-in-adults-with-advanced-progressive-illness
#15
REVIEW
Cathy Payne, Philip J Wiffen, Suzanne Martin
BACKGROUND: Fatigue and unintentional weight loss are two of the commonest symptoms experienced by people with advanced progressive illness. Appropriate interventions may bring considerable improvements in function and quality of life to seriously ill people and their families, reducing physical, psychological and spiritual distress. OBJECTIVES: To conduct an overview of the evidence available on the efficacy of interventions used in the management of fatigue and/or unintentional weight loss in adults with advanced progressive illness by reviewing the evidence contained within Cochrane reviews...
April 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28374236/novel-magnetic-resonance-imaging-findings-in-a-patient-with-short-chain-acyl-coa-dehydrogenase-deficiency
#16
Chiplunkar, Parayil Sankaran Bindu, Madhu Nagappa, Bobby Baby Panikulam, Hanumanthapura R Arvinda, Periyasamy Govindaraj, M M Srinivas Bharath, Narayanappa Gayathri, J N Jessiena Ponmalar, Pavagada S Mathuranath, Sanjib Sinha, Arun B Taly
Reports on magnetic resonance imaging findings in patients with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency, an autosomal recessive disorder caused by mutations in the acyl-Coenzyme A dehydrogenase (ACADS), are limited. Many asymptomatic carriers of ACAD variants have also been described necessitating careful evaluation of clinical and biochemical findings for an accurate diagnosis. Here we report a an infant with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency diagnosed based on the characteristic biochemical findings and confirmed by genetic testing...
April 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28366991/supplementation-with-carnitine-reduces-the-severity-of-constipation-a-retrospective-study-of-patients-with-severe-motor-and-intellectual-disabilities
#17
Shinya Murata, Keisuke Inoue, Tomoki Aomatsu, Atsushi Yoden, Hiroshi Tamai
Carnitine is an essential nutrient for the mitochondrial transport of fatty acids. Carnitine deficiency causes a variety of symptoms in multiple organs. Patients with severe motor and intellectual disabilities often have carnitine deficiency. This study aimed to determine the correlation between constipation and carnitine deficiency in them. Patients with severe motor and intellectual disabilities at our hospital were retrospectively reviewed. The correlation between level of free carnitine and severity of constipation was examined...
March 2017: Journal of Clinical Biochemistry and Nutrition
https://www.readbyqxmd.com/read/28324172/enzymes-involved-in-branched-chain-amino-acid-metabolism-in-humans
#18
REVIEW
María M Adeva-Andany, Laura López-Maside, Cristóbal Donapetry-García, Carlos Fernández-Fernández, Cristina Sixto-Leal
Branched-chain amino acids (leucine, isoleucine and valine) are structurally related to branched-chain fatty acids. Leucine is 2-amino-4-methyl-pentanoic acid, isoleucine is 2-amino-3-methyl-pentanoic acid, and valine is 2-amino-3-methyl-butanoic acid. Similar to fatty acid oxidation, leucine and isoleucine produce acetyl-coA. Additionally, leucine generates acetoacetate and isoleucine yields propionyl-coA. Valine oxidation produces propionyl-coA, which is converted into methylmalonyl-coA and succinyl-coA. Branched-chain aminotransferase catalyzes the first reaction in the catabolic pathway of branched-chain amino acids, a reversible transamination that converts branched-chain amino acids into branched-chain ketoacids...
March 21, 2017: Amino Acids
https://www.readbyqxmd.com/read/28298333/multiple-ampk-activators-inhibit-l-carnitine-uptake-in-c2c12-skeletal-muscle-myotubes
#19
Andy Shaw, Stewart Jeromson, Kenneth R Watterson, John D Pediani, Iain Gallagher, Tim Whalley, Gillian Dreczkowski, Naomi Brooks, Stuart Galloway, D Lee Hamilton
Mutations in the gene that encodes the principal L-Carnitine transporter, OCTN2, can lead to a reduced intracellular L-Carnitine pool and the disease Primary Carnitine Deficiency. L-Carnitine supplementation is used therapeutically to increase intracellular L-Carnitine. As AMPK and insulin regulate fat metabolism and substrate uptake we hypothesised that AMPK activating compounds and insulin would increase L-Carnitine uptake in C2C12 myotubes. The cells express all three OCTN transporters at the mRNA level and immunohistochemistry confirmed expression at the protein level...
March 15, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/28295041/exome-sequencing-identifies-primary-carnitine-deficiency-in-a-family-with-cardiomyopathy-and-sudden-death
#20
Najim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally-Ann B Clur, Karin Y van Spaendonck-Zwarts, Alex V Postma, Abdelaziz Sefiani, Ilham Ratbi, Connie R Bezzina
Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes of cardiomyopathy in a systematic and unbiased manner. This is particularly important given the large clinical variability among pediatric cardiomyopathy patients and the large number of genes (>100) implicated in the disorder...
June 2017: European Journal of Human Genetics: EJHG
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