Read by QxMD icon Read

Carnitine deficiency

Beena Devanapalli, Kevin Carpenter
No abstract text is available yet for this article.
February 2016: Pathology
Patrick Vancura, Tanja Wolloscheck, Kenkichi Baba, Gianluca Tosini, P Michael Iuvone, Rainer Spessert
The energy metabolism of the retina might comply with daily changes in energy demand and is impaired in diabetic retinopathy-one of the most common causes of blindness in Europe and the USA. The aim of this study was to investigate putative adaptation of energy metabolism in healthy and diabetic retina. Hence expression analysis of metabolic pathway genes was performed using quantitative polymerase chain reaction, semi-quantitative western blot and immunohistochemistry. Transcriptional profiling of key enzymes of energy metabolism identified transcripts of mitochondrial fatty acid β-oxidation enzymes, i...
2016: PloS One
Shin-Ichiro Hagiwara, Mitsuru Kubota, Ryusuke Nambu, Seiichi Kagimoto
BACKGROUND: It is important to assess pediatric patients for nutritional deficiencies when they are receiving specific interventions, such as enteral feeding. We focused our attention on measuring C0 and C5-OH with tandem mass spectrometry (MS/MS), which is performed as part of the newborn mass screening. The purpose of this study is to investigate the usefulness of MS/MS for screening carnitine and biotin deficiencies. METHODS: Forty-two children (24 males and 18 females) were enrolled between December 2013 and December 2015...
September 16, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Atsushi Shima, Tetsuhiko Yasuno, Kenji Yamada, Miyoko Yamaguchi, Ryuichi Kohno, Seiji Yamaguchi, Hiroshi Kido, Hidetoshi Fukuda
Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurrent episodes of rhabdomyolysis. The adult myopathic form of CPT II deficiency is relatively benign and difficult to diagnose. The point mutation S113L in CPT2 is very common in Caucasian patients, whereas F383Y is the most common mutation among Japanese patients. We herein present a case of CPT II deficiency in a Japanese patient homozygous for the missense mutation S113L. The patient showed a decreased frequency of rhabdomyolysis recurrence after the administration of a diet containing medium-chain triglyceride oil and supplementation with carnitine and bezafibrate...
2016: Internal Medicine
Yoichiro Takahashi, Rie Sano, Yoshihiko Kominato, Rieko Kubo, Keiko Takahashi, Tamiko Nakajima, Haruo Takeshita, Takashi Ishige
We investigated a case of sudden unexpected death involving a 22-month-old male homozygotic twin infant. After both of the twins had suffered from gastroenteritis, one was found dead in his bed, but his brother survived and has since been healthy. Notably, only the deceased had been treated with an antibiotic containing pivalic acid, which may sometimes cause hypocarnitinemia. Postmortem computed tomography and medicolegal autopsy demonstrated severe liver steatosis, and subsequent genetic analysis revealed that the twin had the thermolabile variant of carnitine palmitoyl transferase 2 (CPT2)...
September 2016: Legal Medicine
Shivani Deswal, Sunita Bijarnia-Mahay, Vinamr Manocha, Keiichi Hara, Yosuke Shigematsu, Renu Saxena, Ishwar C Verma
Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder caused by a defect in plasma membrane uptake of carnitine due to SLC22A5 gene mutations. A nine-mo-old boy presented with hypertrophic cardiomyopathy, massive hepatomegaly and jaundice. Metabolic testing revealed very low free carnitine levels. Genetic analysis using Sanger sequencing method revealed compound heterozygous mutations in SLC22A5 gene, c. 1354 G > A (p. Glu452Lys, previously reported) and c.231_234del (novel frame-shift)...
September 1, 2016: Indian Journal of Pediatrics
Jamal Bouitbir, Patrizia Haegler, François Singh, Lorenz Joerin, Andrea Felser, Urs Duthaler, Stephan Krähenbühl
PURPOSE: The effects of carnitine depletion upon exercise performance and skeletal muscle mitochondrial function remain largely unexplored. We therefore investigated the effect of N-trimethyl-hydrazine-3-propionate (THP), a carnitine analog inhibiting carnitine biosynthesis and renal carnitine reabsorption, on physical performance and skeletal muscle mitochondrial function in rats. METHODS: Male Sprague Dawley rats were treated daily with water (control rats; n = 12) or with 20 mg/100 g body weight THP (n = 12) via oral gavage for 3 weeks...
2016: Frontiers in Physiology
Heitor Pons Leite, Lúcio Flávio Peixoto de Lima
Despite the advances made in monitoring and treatment of sepsis and septic shock, many septic patients ultimately develop multiple organ dysfunction (MODS) and die, suggesting that other players are involved in the pathophysiology of this syndrome. Mitochondrial dysfunction occurs early in sepsis and has a central role in MODS development. MODS severity and recovery of mitochondrial function have been associated with survival. In recent clinical and experimental investigations, mitochondrion-target therapy for sepsis and septic shock has been suggested to reduce MODS severity and mortality...
July 2016: Journal of Thoracic Disease
Hirokazu Katayama, Kohki Mizukami, Manami Yasuda, Tomomi Hatae
The long-term administration of valproic acid (VPA) may decrease the plasma concentrations of l-carnitine in epileptic patients. l-Carnitine is essential for the β-oxidation of fatty acids. The aim of this study is to determine whether endogenous l-carnitine affects the pharmacokinetics of VPA in l-carnitine-deficient (CD) rats. An l-carnitine deficiency was induced in rats using sodium pivalate. The pharmacokinetics of VPA were examined following its intravenous or oral administration to rats. The plasma and urine concentrations of VPA and its metabolites were determined using gas chromatography-mass spectrometry methods...
October 2016: Journal of Pharmaceutical Sciences
Chunyang Du, Ming Wu, Huan Liu, Yunzhuo Ren, Yunxia Du, Haijiang Wu, Jinying Wei, Chuxin Liu, Fang Yao, Hui Wang, Yan Zhu, Huijun Duan, Yonghong Shi
Abnormal lipid metabolism contributes to the renal lipid accumulation, which is associated with diabetic kidney disease, but its precise mechanism remains unclear. The growing evidence demonstrates that thioredoxin-interacting protein is involved in regulating cellular glucose and lipid metabolism. Here, we investigated the effects of thioredoxin-interacting protein on lipid accumulation in diabetic kidney disease. In contrast to the diabetic wild-type mice, the physical and biochemical parameters were improved in the diabetic thioredoxin-interacting protein knockout mice...
October 2016: International Journal of Biochemistry & Cell Biology
Gergely Kacso, Dora Ravasz, Judit Doczi, Beáta Németh, Ory Madgar, Ann Saada, Polina Ilin, Chaya Miller, Elsebet Ostergaard, Iordan Iordanov, Daniel Adams, Zsuzsanna Vargedo, Masatake Araki, Kimi Araki, Mai Nakahara, Haruka Ito, Aniko Gál, Mária J Molnár, Zsolt Nagy, Attila Patocs, Vera Adam-Vizi, Christos Chinopoulos
Succinate-CoA ligase (SUCL) is a heterodimer enzyme composed of Suclg1 α-subunit and a substrate-specific Sucla2 or Suclg2 β-subunit yielding ATP or GTP, respectively. In humans, the deficiency of this enzyme leads to encephalomyopathy with or without methylmalonyl aciduria, in addition to resulting in mitochondrial DNA depletion. We generated mice lacking either one Sucla2 or Suclg2 allele. Sucla2 heterozygote mice exhibited tissue- and age-dependent decreases in Sucla2 expression associated with decreases in ATP-forming activity, but rebound increases in cardiac Suclg2 expression and GTP-forming activity...
October 15, 2016: Biochemical Journal
Kristina Teär Fahnehjelm, Liu Ying, David Olsson, Urban Amrén, Charlotte Bieneck Haglind, Gerd Holmström, Maria Halldin, Sten Andreasson, Anna Nordenström
AIM: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). This study correlated long-term electroretinographic findings with age, metabolic control and clinical symptoms. METHODS: We examined 12 Swedish patients with LCHADD. Visual acuity testing, fundus examinations, optical coherence tomography and electroretinographics were performed. The results were correlated to age, the levels of 3-hydroxyl acyl carnitine and acylcarnitine and clinical metabolic control...
July 27, 2016: Acta Paediatrica
Jong-Seok Moon, Kiichi Nakahira, Kuei-Pin Chung, Gina M DeNicola, Michael Jakun Koo, Maria A Pabón, Kristen T Rooney, Joo-Heon Yoon, Stefan W Ryter, Heather Stout-Delgado, Augustine M K Choi
Altered metabolism has been implicated in the pathogenesis of inflammatory diseases. NADPH oxidase 4 (NOX4), a source of cellular superoxide anions, has multiple biological functions that may be of importance in inflammation and in the pathogenesis of human metabolic diseases, including diabetes. However, the mechanisms by which NOX4-dependent metabolic regulation affect the innate immune response remain unclear. Here we show that deficiency of NOX4 resulted in reduced expression of carnitine palmitoyltransferase 1A (CPT1A), which is a key mitochondrial enzyme in the fatty acid oxidation (FAO) pathway...
September 2016: Nature Medicine
Johannes Sander, Michael Terhardt, Stefanie Sander, Nils Janzen
L-α-amino-methylenecyclopropyl propionic acid (Hypoglycin A, HGA) has been found to be the toxic compound in fruits of the Sapindaceae family causing acute intoxication when ingested as food or feed. Clinical symptoms are consistent with acquired multiple acyl-CoA dehydrogenase deficiency (MADD). Ultra performance liquid chromatography-tandem mass spectrometry was used to measure HGA after butylation. Sample volumes were 10μL for serum and 20μL for urine. Internal standard for HGA was d3-leucine, samples were plotted on a 7-point linear calibration curve...
September 1, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
M'hammed Aguennouz, Marco Beccaria, Giorgia Purcaro, Marianna Oteri, Giuseppe Micalizzi, Olimpia Musumesci, Annmaria Ciranni, Rosa Maria Di Giorgio, Antonio Toscano, Paola Dugo, Luigi Mondello
Lipid dysmetabolism disease is a condition in which lipids are stored abnormally in organs and tissues throughout the body, causing muscle weakness (myopathy). Usually, the diagnosis of this disease and its characterization goes through dosage of Acyl CoA in plasma accompanied with evidence of droplets of intra-fibrils lipids in the patient muscle biopsy. However, to understand the pathophysiological mechanisms of lipid storage diseases, it is useful to identify the nature of lipids deposited in muscle fiber...
September 1, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
Jing Yang, Fengyue Wang, Weiju Sun, Yanli Dong, Mingyu Li, Lu Fu
Despite the importance of testosterone as a metabolic hormone, its effects on myocardial metabolism in the ischemic heart remain unclear. Myocardial ischemia leads to metabolic remodeling, ultimately resulting in ATP deficiency and cardiac dysfunction. In the present study, the effects of testosterone replacement on the ischemic heart were assessed in a castrated rat myocardial infarction model established by ligating the left anterior descending coronary artery 2 weeks after castration. The results of real-time PCR and Western blot analyses showed that peroxisome proliferator-activated receptor α (PPARα) decreased in the ischemic myocardium of castrated rats, compared with the sham-castration group, and the mRNA expression of genes involved in fatty acid metabolism (the fatty acid translocase CD36, carnitine palmitoyltransferase I, and medium-chain acyl-CoA dehydrogenase) and glucose transporter-4 also decreased...
2016: PPAR Research
Kai Li, Yuzhong Xiao, Junjie Yu, Tingting Xia, Bin Liu, Yajie Guo, Jiali Deng, Shanghai Chen, Chunxia Wang, Feifan Guo
Although numerous biological functions of the activating transcription factor 4 (ATF4) have been identified, a direct effect of ATF4 on alcoholic liver steatosis has not been described previously. The aim of our current study is to investigate the role of ATF4 in alcoholic liver steatosis and elucidate the underlying mechanisms. Here, we showed that the expression of ATF4 is induced by ethanol in hepatocytes in vitro and in vivo, and liver-specific ATF4 knock-out mice are resistant to ethanol-induced liver steatosis, associated with stimulated hepatic AMP-activated protein kinase (AMPK) activity...
August 26, 2016: Journal of Biological Chemistry
Mette Cathrine Ørngreen
The main purpose of the following studies was to investigate pathophysiological mechanisms in fat and carbohydrate metabolism and effect of nutritional interventions in patients with metabolic myopathies and in patients with severe muscle wasting. Yet there is no cure for patients with skeletal muscle disorders. The group of patients is heterozygous and this thesis is focused on patients with metabolic myopathies and low muscle mass due to severe muscle wasting. Disorders of fatty acid oxidation (FAO) are, along with myophosphorylase deficiency (McArdle disease), the most common inborn errors of metabolism leading to recurrent episodes of rhabdomyolysis in adults...
July 2016: Danish Medical Journal
Benedetta Bigio, Aleksander A Mathé, Vasco C Sousa, Danielle Zelli, Per Svenningsson, Bruce S McEwen, Carla Nasca
Although regulation of energy metabolism has been linked with multiple disorders, its role in depression and responsiveness to antidepressants is less known. We found that an epigenetic and energetic agent, acetyl-l-carnitine (LAC, oral administration), rapidly rescued the depressive- and central and systemic metabolic-like phenotype of LAC-deficient Flinders Sensitive Line rats (FSL). After acute stress during LAC treatment, a subset of FSL continued to respond to LAC (rFSL), whereas the other subset did not (nrFSL)...
July 12, 2016: Proceedings of the National Academy of Sciences of the United States of America
J Bauquier, A Stent, J Gibney, I Jerrett, J White, B Tennent-Brown, A Pearce, J Pitt
REASON FOR PERFORMING THE STUDY: Investigation of toxicosis caused by Malva parviflora was required after four horses from the same farm developed severe muscle fasciculations, tachycardia, sweating and periods of recumbency leading to death or euthanasia after ingesting the plant. OBJECTIVES: Describe historical, clinical, clinicopathological and pathological findings of four horses with suspected Malva parviflora toxicosis. The role of cyclopropene fatty acids (found in Malva parviflora) and mechanism for toxicosis are proposed...
June 24, 2016: Equine Veterinary Journal
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"