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Carnitine deficiency

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https://www.readbyqxmd.com/read/28397225/-clinical-features-and-genetic-analysis-of-a-case-with-carnitine-palmitoyltransferase-1a-deficiency
#1
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
#2
Bruno Lefort, Elodie Gouache, Cécile Acquaviva, Marine Tardieu, Jean François Benoist, Jean-François Dumas, Stéphane Servais, Stéphan Chevalier, Christine Vianey-Saban, François Labartheh
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https://www.readbyqxmd.com/read/28387447/withdrawn-interventions-for-fatigue-and-weight-loss-in-adults-with-advanced-progressive-illness
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28287425/the-relationship-between-mitochondrial-respiratory-chain-activities-in-muscle-and-metabolites-in-plasma-and-urine-a-retrospective-study
#9
Corinne Alban, Elena Fatale, Abed Joulani, Polina Ilin, Ann Saada
The relationship between 114 cases with decreased enzymatic activities of mitochondrial respiratory chain (MRC) complexes I-V (C I-V) in muscle and metabolites in urine and plasma was retrospectively examined. Less than 35% disclosed abnormal plasma amino acids and acylcarnitines, with elevated alanine and low free carnitine or elevated C4-OH-carnitine as the most common findings, respectively. Abnormal urine organic acids (OA) were detected in 82% of all cases. In CI and CII defects, lactic acid (LA) in combination with other metabolites was the most common finding...
March 10, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28274611/matrix-effect-corrected-liquid-chromatography-tandem-mass-spectrometric-method-for-determining-acylcarnitines-in-human-urine
#10
Kazuki Abe, Hiroyuki Suzuki, Masamitsu Maekawa, Miki Shimada, Hiroaki Yamaguchi, Nariyasu Mano
Administration of pivalate-containing antibiotics decreases serum carnitine and increases urinary pivaloylcarnitine, resulting in hypocarnitinemia. Carnitine and acylcarnitines are important biomarkers in the diagnosis of carnitine deficiency, but the relationship between acylcarnitines and drug-induced hypocarnitinemia remains unclear. Quantification of acylcarnitines enables discovery of new biomarkers for prediction and diagnosis of drug-induced hypocarnitinemia. Here we describe a liquid chromatography/tandem mass-spectrometric method for simultaneously quantifying carnitine, 15 acylcarnitines, and cefditoren (the pivoxilated product of an antibiotic prodrug) in human urine...
March 6, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28254256/secondary-carnitine-deficiency-in-environmental-enteric-dysfunction
#11
Girija Ramakrishnan, William A Petri
No abstract text is available yet for this article.
March 2017: EBioMedicine
https://www.readbyqxmd.com/read/28243546/l-carnitine-improves-gastrointestinal-disorders-and-altered-the-intestinal-microbiota-in-hemodialysis-patients
#12
Junichiro Irie, Yoshihiko Kanno, Rieko Kikuchi, Tadashi Yoshida, Seizo Murai, Miwako Watanabe, Hiroshi Itoh, Matsuhiko Hayashi
Patients receiving hemodialysis also manifest gastrointestinal symptoms, such as constipation, caused by restriction of water intake and the loss of body water balance. Because dietary carnitine deficiency is considered to cause smooth muscle dysmotility of the gastrointestinal tract similarly to that in skeletal muscles, carnitine deficiency in hemodialysis patients may be one cause of gastrointestinal discomfort and dysfunctions. We performed a multicenter nonrandomized single-arm prospective clinical trial...
2017: Bioscience of Microbiota, Food and Health
https://www.readbyqxmd.com/read/28223293/the-loss-of-macrophage-fatty-acid-oxidation-does-not-potentiate-systemic-metabolic-dysfunction
#13
Elsie Gonzalez-Hurtado, Jieun Lee, Joseph Choi, Ebru S Selen Alpergin, Samuel L Collins, Maureen R Horton, Michael J Wolfgang
Fatty acid oxidation in macrophages has been suggested to play a causative role in high-fat diet-induced metabolic dysfunction, particularly in the etiology of adipose driven insulin resistance. To understand the contribution of macrophage fatty acid oxidation directly to metabolic dysfunction in high-fat diet-induced obesity, we generated mice with a myeloid-specific knockout of carnitine palmitoyltransferase 2 (CPT2 Mϕ-KO), an obligate step in mitochondrial long-chain fatty acid oxidation. While fatty acid oxidation was clearly induced upon IL-4 stimulation, fatty acid oxidation deficient CPT2 Mϕ-KO bone marrow derived macrophages (BMDM) displayed canonical markers of M2 polarization following IL-4 stimulation in vitro...
February 21, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28220407/favourable-outcome-in-two-pregnancies-in-a-patient-with-3-hydroxy-3-methylglutaryl-coa-lyase-deficiency
#14
David Santosa, Markus G Donner, Stephan Vom Dahl, Markus Fleisch, Thomas Hoehn, Ertan Mayatepek, Katrin Heldt, Tim Niehues, Dieter Häussinger
In patients with 3-hydroxy-3-methylglutaryl(HMG)-CoA lyase deficiency (OMIM 246450), five pregnancies have been described worldwide, which were either terminated or resulted in severe metabolic sequelae during pregnancy or delivery. Here, we report on a patient with HMG-CoA lyase deficiency, who underwent two uncomplicated pregnancies. The 19-year-old patient was admitted because of recurrent vomiting and nausea. Diagnostics revealed pregnancy at week 8 of gestation. Metabolic analyses revealed normal lactate and blood glucose levels and normal acid-base status...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28214879/thiamine-deprivation-produces-a-liver-atp-deficit-and-metabolic-and-genomic-effects-in-mice-findings-are-parallel-to-those-of-biotin-deficiency-and-have-implications-for-energy-disorders
#15
Alain de J Hernandez-Vazquez, Josue Andres Garcia-Sanchez, Elizabeth Moreno-Arriola, Ana Salvador-Adriano, Daniel Ortega-Cuellar, Antonio Velazquez-Arellano
Thiamine is one of several essential cofactors for ATP generation. Its deficiency, like in beriberi and in the Wernicke-Korsakoff syndrome, has been studied for many decades. However, its mechanism of action is still not completely understood at the cellular and molecular levels. Since it acts as a coenzyme for dehydrogenases of pyruvate, branched-chain keto acids, and ketoglutarate, its nutritional privation is partly a phenocopy of inborn errors of metabolism, among them maple syrup urine disease. In the present paper, we report metabolic and genomic findings in mice deprived of thiamine...
2016: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/28213130/dipeptidyl-peptidase-4-impairs-insulin-signaling-and-promotes-lipid-accumulation-in-hepatocytes
#16
Kerstin Rufinatscha, Bernhard Radlinger, Jochen Dobner, Sabrina Folie, Claudia Bon, Elisabeth Profanter, Claudia Ress, Karin Salzmann, Gabriele Staudacher, Herbert Tilg, Susanne Kaser
Dipeptidyl-peptidase 4 [DPP-4) has evolved into an important target in diabetes therapy due to its role in incretin hormone metabolism. In contrast to its systemic effects, cellular functions of membranous DPP-4 are less clear. Here we studied the role of DPP-4 in hepatic energy metabolism. In order to distinguish systemic from cellular effects we established a cell culture model of DPP-4 knockdown in human hepatoma cell line HepG2. DPP-4 suppression was associated with increased basal glycogen content due to enhanced insulin signaling as shown by increased phosphorylation of insulin-receptor substrate 1 (IRS-1), protein kinase B/Akt and mitogen-activated protein kinases (MAPK)/ERK, respectively...
April 1, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28186590/-mutational-analysis-of-slc22a5-gene-in-eight-patients-with-systemic-primary-carnitine-deficiency
#17
Yiming Lin, Weihua Lin, Ke Yu, Faming Zheng, Zhenzhu Zheng, Qingliu Fu
OBJECTIVE: To investigate the mutations of SLC22A5 gene in patients with systemic primary carnitine deficiency (CDSP). METHODS: High liquid chromatography tandem mass spectrometry (HPLC/MS/MS) was applied to screen congenital genetic metabolic disease and eight patients with CDSP were diagnosed among 77 511 samples. The SLC22A5 gene mutation was detected using massarray technology and sanger sequencing. Using SIFT and PolyPhen-2 to predict the function of protein for novel variations...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28180063/carnitine-acetyltransferase-crat-expression-in-macrophages-is-dispensable-for-nutrient-stress-sensing-and-inflammation
#18
Emily L Goldberg, Vishwa Deep Dixit
OBJECTIVE: Fatty acid oxidation in macrophages is thought to regulate inflammatory status and insulin-sensitivity. An important unanswered question in this field is whether carnitine acetyl-transferase (CrAT) that regulates fatty acid oxidation and mitochondrial acetyl-CoA balance is required to integrate nutrient stress sensing to inflammatory response in macrophages. METHODS: Mice with myeloid lineage-specific Crat deletion were subjected to several metabolic stressors, including high-fat diet-induced obesity, fasting, and LPS-induced endotoxemia...
February 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/28164076/systemic-primary-carnitine-deficiency-with-hypoglycemic-encephalopathy
#19
Jae Sung Jun, Eun Joo Lee, Hyung Doo Park, Hae Sook Kim
Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28143689/reversible-brain-atrophy-in-glutaric-aciduria-type-1
#20
Yurika Numata-Uematsu, Osamu Sakamoto, Yosuke Kakisaka, Yukimune Okubo, Yoshitsugu Oikawa, Natsuko Arai-Ichinoi, Shigeo Kure, Mitsugu Uematsu
Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. The typical clinical onset features an acute encephalopathic crisis developed in early childhood, causing irreversible striatal injury. Recently, tandem mass spectrometry of spots of dried blood has allowed pre-symptomatic detection of GA1 in newborns. Early treatment can prevent irreversible neurological injury. We report the case of a girl with GA1 who exhibited a characteristic reversible change upon brain magnetic resonance imaging (MRI)...
January 28, 2017: Brain & Development
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