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Carnitine deficiency

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https://www.readbyqxmd.com/read/27931034/historical-perspective-on-clinical-trials-of-carnitine-in-children-and-adults
#1
Neil R M Buist
The metabolic roles of carnitine have been greatly clarified over the past 50 years, and it is now well established that carnitine is a key player in mitochondrial generation of energy and metabolism of acetyl coenzyme A. A therapeutic role for carnitine in treatment of nutritional deficiencies in infants and children was first demonstrated in 1958, and since that time it has been used to treat a number of inborn errors of metabolism. Carnitine was approved by the US Food and Drug Administration in 1985 for treatment of 'primary carnitine deficiency', and later in 1992 for treatment of 'secondary carnitine deficiency', a definition that included the majority of relevant metabolic disorders associated with low or abnormal plasma carnitine levels...
December 9, 2016: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/27931031/round-table-discussion
#2
Susan Winter, Neil R M Buist, Nicola Longo, Saro H Armenian, Gary Lopaschuk, Anna Wasilewska
The 1st International Carnitine Working Group concluded with a round table discussion addressing several areas of relevance. These included the design of future studies that could increase the amount of evidence-based data about the role of carnitine in the treatment of fatty acid oxidation defects, for which substantial controversy still exists. There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double-blinded, multicentered and minimally include the following diagnoses: medium-chain acyl coenzyme A (CoA) dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and mitochondrial trifunctional protein deficiency...
December 9, 2016: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/27931018/primary-carnitine-deficiency-and-newborn-screening-for-disorders-of-the-carnitine-cycle
#3
Nicola Longo
Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency, and newborn screening programmes can identify patients at risk for this condition before irreversible damage...
December 9, 2016: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/27928776/the-risk-of-fatty-acid-oxidation-disorders-and-organic-acidemias-in-children-with-normal-newborn-screening
#4
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27895474/efficacy-of-l-carnitine-supplementation-on-frailty-status-and-its-biomarkers-nutritional-status-and-physical-and-cognitive-function-among-prefrail-older-adults-a-double-blind-randomized-placebo-controlled-clinical-trial
#5
M Badrasawi, Suzana Shahar, A M Zahara, R Nor Fadilah, Devinder Kaur Ajit Singh
BACKGROUND: Frailty is a biological syndrome of decreased reserve and resistance to stressors due to decline in multiple physiological systems. Amino acid deficiency, including L-carnitine, has been proposed to be associated with its pathophysiology. Nevertheless, the efficacy of L-carnitine supplementation on frailty status has not been documented. Thus, this study aimed to determine the effect of 10-week L-carnitine supplement (1.5 g/day) on frailty status and its biomarkers and also physical function, cognition, and nutritional status among prefrail older adults in Klang Valley, Malaysia...
2016: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/27856995/choline-protects-against-intestinal-failure-associated-liver-disease-in-parenteral-nutrition-fed-immature-rats
#6
Jie Zhu, Ting Lu, Fei Chen, Junkai Yan, Fan Chen, Qiaosen Zhang, Jifan Wang, Weihui Yan, Tingxi Yu, Qingya Tang, Wei Cai
BACKGROUND: Deficiency of choline, a required nutrient, is related to intestinal failure-associated liver disease (IFALD). Therefore, we aimed to investigate the effects of choline supplementation on IFALD and the underlying mechanisms. METHODS: Male Sprague-Dawley rats (4 weeks old) were fed AIN-93G chow and administered intravenous 0.9% saline (control), parenteral nutrition (PN), or PN plus intravenous choline (600 mg/kg) for 7 days. We evaluated body weight, hepatic histology, biochemical indicators, triglycerides, oxidative status, methylation levels of peroxisomal proliferator-activated receptor alpha (PPARα) gene promoter, expression of PPARα and carnitine palmitoyltransferase 1 (CPT1), and levels of choline metabolites...
November 17, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/27853989/proposed-recommendations-for-diagnosing-and-managing-individuals-with-glutaric-aciduria-type-i-second-revision
#7
REVIEW
Nikolas Boy, Chris Mühlhausen, Esther M Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R Greenberg, Inga Harting, Georg F Hoffmann, Daniela Karall, David M Koeller, Michael B Krawinkel, Jürgen G Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines)...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27851311/1676-hyperammonemia-associated-with-decompensated-carnitine-palmitoyltransferase-1-deficiency
#8
Akshay Shah, Raja Jayaram, Adrian Wong
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27809283/effect-of-high-carbohydrate-diet-on-plasma-metabolome-in-mice-with-mitochondrial-respiratory-chain-complex-iii-deficiency
#9
Jayasimman Rajendran, Nikica Tomašić, Heike Kotarsky, Eva Hansson, Vidya Velagapudi, Jukka Kallijärvi, Vineta Fellman
Mitochondrial disorders cause energy failure and metabolic derangements. Metabolome profiling in patients and animal models may identify affected metabolic pathways and reveal new biomarkers of disease progression. Using liver metabolomics we have shown a starvation-like condition in a knock-in (Bcs1l(c.232A>G)) mouse model of GRACILE syndrome, a neonatal lethal respiratory chain complex III dysfunction with hepatopathy. Here, we hypothesized that a high-carbohydrate diet (HCD, 60% dextrose) will alleviate the hypoglycemia and promote survival of the sick mice...
November 1, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27807682/dilated-cardiomyopathy-as-the-only-clinical-manifestation-of-carnitine-transporter-deficiency
#10
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Vaia Dokousli, Maria Eboriadou, Athanasios Evangeliou
The authors present a case of carnitine transporter deficiency, which was unmasked after an episode of respiratory distress resistant to treatment with bronchodilators. Chest radiograph showed cardiomegaly; electrocardiogram showed left ventricular hypertrophy and echocardiography revealed dilated cardiomyopathy. Heart failure therapy was initiated and metabolic screening was requested, as family history was indicative of inborn errors of metabolism. Very low levels of free carnitine and carnitine esters in blood were found and genetic testing confirmed the diagnosis of carnitine transporter deficiency...
November 3, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27772999/maternal-carnitine-uptake-deficiency-detected-by-newborn-screening
#11
Beena Devanapalli, Kevin Carpenter
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27727308/circadian-and-dopaminergic-regulation-of-fatty-acid-oxidation-pathway-genes-in-retina-and-photoreceptor-cells
#12
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
https://www.readbyqxmd.com/read/27634667/screening-of-carnitine-and-biotin-deficiencies-on-tandem-mass-spectrometry
#13
Shin-Ichiro Hagiwara, Mitsuru Kubota, Ryusuke Nambu, Seiichi Kagimoto
BACKGROUND: It is important to assess pediatric patients for nutritional deficiency when they are receiving specific interventions, such as enteral feeding. We focused on measurement of C0 and 3-hydroxyisovalerylcarnitine (C5-OH) with tandem mass spectrometry (MS/MS), which is performed as part of the newborn mass screening. The purpose of this study was to investigate the usefulness of MS/MS for screening carnitine and biotin deficiencies. METHODS: Forty-two children (24 boys, 18 girls) were enrolled between December 2013 and December 2015...
September 16, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27629963/first-japanese-case-of-carnitine-palmitoyltransferase-ii-deficiency-with-the-homozygous-point-mutation-s113l
#14
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
https://www.readbyqxmd.com/read/27591533/a-case-of-sudden-unexpected-infant-death-involving-a-homozygotic-twin-with-the-thermolabile-cpt2-variant-accompanied-by-rotavirus-infection-and-treatment-with-an-antibiotic-containing-pivalic-acid
#15
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
https://www.readbyqxmd.com/read/27581592/primary-carnitine-deficiency-a-rare-treatable-cause-of-cardiomyopathy-and-massive-hepatomegaly
#16
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
https://www.readbyqxmd.com/read/27559315/impaired-exercise-performance-and-skeletal-muscle-mitochondrial-function-in-rats-with-secondary-carnitine-deficiency
#17
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
https://www.readbyqxmd.com/read/27501325/metabolic-resuscitation-in-sepsis-a-necessary-step-beyond-the-hemodynamic
#18
COMMENT
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
https://www.readbyqxmd.com/read/27499337/effects-of-carnitine-on-valproic-acid-pharmacokinetics-in-rats
#19
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
https://www.readbyqxmd.com/read/27497988/thioredoxin-interacting-protein-regulates-lipid-metabolism-via-akt-mtor-pathway-in-diabetic-kidney-disease
#20
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
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