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Carnitine deficiency

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https://www.readbyqxmd.com/read/28223293/the-loss-of-macrophage-fatty-acid-oxidation-does-not-potentiate-systemic-metabolic-dysfunction
#1
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
#2
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
#3
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...
February 18, 2017: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/28213130/dipeptidyl-peptidase-4-impairs-insulin-signaling-and-promotes-lipid-accumulation-in-hepatocytes
#4
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...
February 16, 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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28122695/environmental-enteric-dysfunction-is-associated-with-carnitine-deficiency-and-altered-fatty-acid-oxidation
#9
Richard D Semba, Indi Trehan, Ximin Li, Ruin Moaddel, M Isabel Ordiz, Kenneth M Maleta, Klaus Kraemer, Michelle Shardell, Luigi Ferrucci, Mark Manary
BACKGROUND: Environmental enteric dysfunction (EED), a condition characterized by small intestine inflammation and abnormal gut permeability, is widespread in children in developing countries and a major cause of growth failure. The pathophysiology of EED remains poorly understood. METHODS: We measured serum metabolites using liquid chromatography-tandem mass spectrometry in 400 children, aged 12-59months, from rural Malawi. Gut permeability was assessed by the dual-sugar absorption test...
January 18, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28105570/primary-carnitine-deficiency-is-foetal-development-affected-and-can-newborn-screening-be-improved
#10
Jan Rasmussen, David M Hougaard, Noreen Sandhu, Katrine Fjællegaard, Poula R Petersen, Ulrike Steuerwald, Allan M Lund
: Primary carnitine deficiency (PCD) causes low levels of carnitine in patients potentially leading to metabolic and cardiac symptoms. Newborn screening for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight in newborns with PCD and newborns born to mothers with PCD compared to controls. Furthermore we report how effective different screening algorithms have been to detect newborns with PCD in the Faroe Islands...
January 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28079870/impact-of-l-carnitine-supplementation-on-metabolic-profiles-in-premature-infants
#11
R H Clark, D H Chace, A R Spitzer
OBJECTIVE: To describe the influence that of l-carnitine supplementation on acylcarnitine (AC) profiles and hospital outcomes in premature infants. STUDY DESIGN: This study is a secondary analysis of previously reported work. Metabolic profiles were obtained using standard newborn techniques on infants born between 23 and 31 completed weeks of gestation. The profiles were drawn within the first 24 h after birth and on approximately days 7, 28 and 42 of life, or at the time of discharge...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#12
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28054946/muscle-carnitine-palmitoyltransferase-ii-deficiency-a-review-of-enzymatic-controversy-and-clinical-features
#13
REVIEW
Diana Lehmann, Leila Motlagh, Dina Robaa, Stephan Zierz
CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolism disorders. In contrast to carnitine deficiency, it is clinically characterized by attacks of myalgia and rhabdomyolysis without persistent muscle weakness and lipid accumulation in muscle fibers. The biochemical consequences of the disease-causing mutations are still discussed controversially. CPT activity in muscles of patients with CPT II deficiency ranged from not detectable to reduced to normal...
January 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28054209/long-term-outcome-of-expanded-newborn-screening-at-boston-children-s-hospital-benefits-and-challenges-in-defining-true-disease
#14
Yuval E Landau, Susan E Waisbren, Lawrence M A Chan, Harvey L Levy
INTRODUCTION: There is no universal consensus of the disorders included in newborn screening programs. Few studies so far, mostly short-term, have compared the outcome of disorders detected by expanded newborn screening (ENBS) to the outcome of the same disorders detected clinically. METHODS: We compared the clinical and neurodevelopmental outcomes in patients with metabolic disorders detected by ENBS, including biotinidase testing, with those detected clinically and followed at the Metabolism Clinic at Boston Children's Hospital...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28053874/long-term-outcome-of-isobutyryl-coa-dehydrogenase-deficiency-diagnosed-following-an-episode-of-ketotic-hypoglycaemia
#15
S Santra, A Macdonald, M A Preece, R K Olsen, B S Andresen
Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations in ACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened patient had dilated cardiomyopathy and anaemia at the age of two years. We report a 13 month old girl diagnosed with IBDD after developing hypoglycaemic encephalopathy (blood glucose 1.9 mmol/l) during an episode of rotavirus-induced gastroenteritis...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28045774/study-of-carnitine-acylcarnitine-and-aminoacid-profile-in-children-and-adults-with-acute-liver-failure
#16
Vikrant Sood, Dinesh Rawat, Rajeev Khanna, Shvetank Sharma, Prem K Gupta, Seema Alam, Shiv Kumar Sarin
OBJECTIVES: Fatty acid oxidation defects (FAODs) may underlie or modify the course of acute liver failure (ALF). Overall significance of carnitine/acylcarnitine and aminoacid profile in ALF is similarly undetermined. Thus, this study was undertaken to study the abnormalities in carnitine/acylcarnitine and aminoacid profile in ALF. PATIENTS AND METHODS: A prospective study was performed including all cases of ALF and detailed evaluation including metabolic testing was done...
December 30, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27995076/diagnosis-of-lchad-tfp-deficiency-in-an-at-risk-newborn-using-umbilical-cord-blood-acylcarnitine-analysis
#17
Donna B Raval, Kristina P Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H Kofman, Brendan Lanpher, Natalie Hauser, Debra S Regier
Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitines. The feasibility of umbilical cord blood use in screening for acylcarnitine analysis and free carnitine has been hypothesized but not reported in LCHAD/TFP neonates. We present a 4 week old female who was at risk of inheriting LCHAD/TFP deficiency and was diagnosed at the time of delivery using umbilical cord blood...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27989332/neuropathic-and-myopathic-pain
#18
REVIEW
Anthony C Rodrigues, Peter B Kang
The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27986616/thermogenesis-fatty-acid-synthesis-with-oxidation-and-inflammation-in-the-brown-adipose-tissue-of-ob-ob-mice
#19
Fabiane Ferreira Martins, Thereza Cristina Lonzetti Bargut, Marcia Barbosa Aguila, Carlos Alberto Mandarim-de-Lacerda
Brown adipose tissue (BAT) is specialized in heat production, but its metabolism in ob/ob mice is still a matter of debate. We aimed to verify ob/ob mice BAT using C57Bl/6 male mice (as the wild-type, WT) and leptin-deficient ob/ob mice (on the C57Bl/6 background strain), at three months of age (n=10/group). At euthanasia, animals had their interscapular BAT weighed, and prepared for analysis (Western blot, and RT-qPCR). In comparison with the WT group, the ob/ob group showed reduced thermogenic signaling markers (gene expression of beta 3-adrenergic receptor, beta3-AR; PPARgamma coactivator 1 alpha, PGC1alpha, and uncoupling protein 1, UCP1)...
March 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/27974123/-cpt2-gene-mutation-analysis-and-prenatal-diagnosis-in-a-family-with-carnitine-palmitoyltransferase-ii-deficiency
#20
Jian-Qiang Tan, Da-Yu Chen, Wu-Gao Li, Zhe-Tao Li, Ji-Wei Huang, Ti-Zhen Yan, Ren Cai
This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old female baby was admitted to the hospital due to fever which had lasted for 8 hours. Tandem mass spectrometric analysis for blood showed an elevated plasma level of acylcarnitine, which suggested CPT II deficiency. The genomic DNA was extracted from peripheral blood of the patient and her parents...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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