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Carnitine deficiency

Nicolaia Iaffaldano, Michele Di Iorio, Luisa Mannina, Gianluca Paventi, Maria Pina Rosato, Silvia Cerolini, Anatoly P Sobolev
Metabolic profile of fresh turkey spermatozoa at three different reproductive period ages, namely 32, 44 and 56 weeks, was monitored by Nuclear Magnetic Resonance (NMR) spectroscopy and correlated to sperm quality parameters. The age-related decrease in sperm quality as indicated by reduction of sperm concentration, sperm mobility and osmotic tolerance was associated to variation in the level of specific water-soluble and liposoluble metabolites. In particular, the highest levels of isoleucine, phenylalanine, leucine, tyrosine and valine were found at 32 weeks of age, whereas aspartate, lactate, creatine, carnitine, acetylcarnitine levels increased during the ageing...
2018: PloS One
Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, Beom Hee Lee
BACKGROUND: Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible. This study describes the clinical, biochemical and molecular characteristics of FAODs patients detected by newborn screening (NBS) compared with those of 9 patients with symptomatic presentations. METHODS: Clinical and genetic features of FAODs patients diagnosed by NBS and by symptomatic presentations were reviewed...
March 8, 2018: BMC Pediatrics
Kang Wang, Lei Hu, Jian-Kang Chen
Recent preclinical and clinical evidence suggests that hyperuricemia (HU) is an independent risk factor for metabolic syndrome, hypertension, cardiovascular disease and chronic kidney disease. Receptor-interacting protein 3 (RIP3) is an important contributor in inducing programmed necrosis, representing a newly identified mechanism of cell death combining features of both apoptosis and necrosis. In our study, RIP3 was strongly expressed in mice with hyperuricemia. RIP3 deficiency attenuated hyperuricemia in mice, evidenced by reduced serum uric acid and creatinine and enhanced urinary uric acid and creatinine, as well as the improved histological alterations in renal sections...
March 5, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Hiroshi Tobita, Shuichi Sato, Tomotaka Yazaki, Tsuyoshi Mishiro, Norihisa Ishimura, Shunnji Ishihara, Yoshikazu Kinoshita
Pioglitazone (PIO) has been reported to be effective for nonalcoholic fatty liver disease (NAFLD) and alogliptin (ALO) may have efficacy against NAFLD progression in patients with type 2 diabetes mellitus (T2DM). The present study examined the effectiveness of ALO in a rodent model of NAFLD and diabetes mellitus. KK‑Ay mice were used to produce an NAFLD model via administration of a choline‑deficient (CD) diet. To examine the effects of alogliptin, KK‑Ay mice were provided with a CD diet with 0.03% ALO and/or 0...
March 1, 2018: Molecular Medicine Reports
Monique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, Karine Mention-Mulliez, Dries Dobbelaere, Claire Douillard, Guilhem Sole, Manuel Schiff, Roland Jaussaud, Caroline Espil-Taris, Audrey Boutron, Wim Wuyts, Cécile Acquaviva, Christine Vianey-Saban, Dominique Roland, Marie Joncquel-Chevalier Curt, Joseph Vamecq
Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated when blood acylcarnitine profile is abnormal. However, a lack of abnormalities or specificity in this profile is not exclusive of CPT2 deficiency. Our retrospective study reports clinical and biological data in a cohort of 11 patients with circulating acylcarnitine profile unconclusive enough for a specific diagnosis orientation...
February 12, 2018: Molecular Genetics and Metabolism
Hiroki Matsui, Takahiro Einama, Shunsuke Shichi, Ryo Kanazawa, Kazuaki Shibuya, Takashi Suzuki, Fumihiko Matsuzawa, Taku Hashimoto, Shigenori Homma, Junji Yamamoto, Akinobu Taketomi, Hironori Abe
L-Carnitine (LC) plays an important role in the metabolism of fatty acids, and LC deficiency is associated with a feeling of weakness or general fatigue. Cancer patients receiving chemotherapy often develop LC deficiency, which is considered to be a factor contributing to general fatigue. The aim of the present study was to evaluate the efficacy of LC supplementation as a treatment for general fatigue in cancer patients during chemotherapy. A total of 11 cancer patients who were suffering from general fatigue during chemotherapy in our hospital between September 2014 and December 2015 were examined (6 cases involved adjuvant chemotherapy and 5 cases involved chemotherapy for unresectable or recurrent disease)...
March 2018: Molecular and Clinical Oncology
Anita MacDonald, Rachel Webster, Matthew Whitlock, Adam Gerrard, Anne Daly, Mary Anne Preece, Sharon Evans, Catherine Ashmore, Anupam Chakrapani, Suresh Vijay, Saikat Santra
BACKGROUND: Children with long-chain fatty acid β-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). It is essential that the safety and efficacy of any new specialist formula designed for LCFAOD be tested in infants and children. METHODS: In an open-label, 21-day, phase I trial, we studied the safety of a new MCT-based formula (feed 1) in six well-controlled children (three male), aged 7-13 years (median 9 years) with LCFAOD (very long chain acyl CoA dehydrogenase deficiency [VLCADD], n=2; long chain 3-hydroxyacyl CoA dehydrogenase deficiency [LCHADD], n=2; carnitine acyl carnitine translocase deficiency [CACTD], n=2)...
February 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Renata Collard, Tomas Majtan, Insun Park, Jan P Kraus
Propionic acidemia is caused by a deficiency of the enzyme propionyl-CoA carboxylase (PCC) located in the mitochondrial matrix. Cell-penetrating peptides, including TAT, offer a potential to deliver a cargo into the mitochondrion. Here, we investigated the delivery of an α6β6 PCC enzyme into mitochondria using HIV transactivator of transcription (TAT) peptide at several levels: into isolated mitochondria, patient fibroblast cells and a mouse model. Western blotting of mitochondria as well as enzyme activity confirmed the import of a fusion TAT-PCC into mitochondria as well as into patient cells and the mitochondrial localization was confirmed additionally by confocal imaging...
January 29, 2018: Molecular and Cellular Biology
Sheng-Jun Wang, Chuan-Zhu Yan, Yi-Ming Liu, Yu-Ying Zhao
The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism. The late-onset cblC siblings patients were rarely reported. In this study, we analyzed the clinical presentations and treatment outcomes of late-onset cblC in Chinese sibling patients with neuropsychiatric presentations. The clinical data of four pairs of Chinese patients were retrospectively analyzed. Serum homocysteine, urine organic acids measurements, neuroimaging exams and gene analysis were carried out in all patents...
January 26, 2018: Metabolic Brain Disease
Susana Pastor, Elisabeth Coll, Lara Rodríguez-Ribera, Elitsa Stoyanova, Zuray F Corredor, Ricard Marcos
End-stage renal disease (ESRD) patients present high levels of phosphorus and calcium products in serum, which contribute to the development of vascular calcification and cardiovascular disease, and to low iron stores and carnitine deficiency. For these reasons, ESRD patients are generally supplemented with different medicines. Some of the most common treatments include the use of Carnicor, Venofer, and Sevelamer drugs. Carnicor is used as a source of L-carnitine, acting as antioxidant and neuroprotector. Venofer is used to reduce the deficit of iron...
January 23, 2018: Environmental and Molecular Mutagenesis
Matthias Cuykx, Leen Claes, Robim M Rodrigues, Tamara Vanhaecke, Adrian Covaci
Non-alcoholic Fatty Liver Disease (NAFLD) is a frequently encountered Drug-Induced Liver Injury (DILI). Although this stage of the disease is reversible, it can lead to irreversible damage provoked by non-alcoholic steatohepatitis (NASH), fibrosis and cirrhosis. Therefore, the assessment of NAFLD is a paramount objective in toxicological screenings of new drug candidates. In this study, a metabolomic fingerprint of NAFLD induced in HepaRG® cells at four dosing schemes by a reference toxicant, sodium valproate (NaVPA), was obtained using liquid-liquid extraction followed by liquid chromatography and accurate mass-mass spectrometry (LC-AM/MS)...
January 17, 2018: Toxicology Letters
M A Clark, R E K Stein, Ellen J Silver, Sabeen Khalid, M Fuloria, N V Esteban-Cruciani
OBJECTIVE: Lipid supplementation improves developmental outcomes in preterm infants. Carnitine is essential for lipid metabolism; however, despite high risk for carnitine deficiency, there are no standards for carnitine supplementation in preterm infants receiving total parenteral nutrition (TPN). Our objective was to assess knowledge, beliefs and practices regarding preterm carnitine deficiency and supplementation among neonatal practitioners. METHODS: Cross-sectional electronic survey administered via a nationally representative listserv of neonatal practitioners...
2017: Journal of Neonatal-perinatal Medicine
David Cucchiari, Irene Colombo, Ottavia Amato, Manuel Alfredo Podestà, Francesco Reggiani, Rossella Valentino, Irene Faravelli, Silvia Testolin, Maurizio Moggio, Salvatore Badalamenti
Rhabdomyolysis is a common cause of acute kidney injury (AKI) that is usually triggered by trauma. However, less common causes of rhabdomyolysis may precipitate AKI as well, possibly representing a diagnostic challenge even for the experienced nephrologist. Genetic defects of muscle metabolism represent one of these causes and can be overlooked in adults, since these diseases usually become apparent in childhood. We present here a case in which an adult patient with severe exertional rhabdomyolysis leading to AKI was finally diagnosed with a genetic defect of lipid metabolism...
December 12, 2017: CEN Case Reports
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate G R Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
February 15, 2018: Human Molecular Genetics
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
February 2018: American Journal of Medical Genetics. Part A
Bonnie L Robinson, Melanie Dumas, Syed F Ali, Merle G Paule, Qiang Gu, Jyotshna Kanungo
Ketamine, a phencyclidine derivative, is an antagonist of the Ca2+ -permeable N-methyl-d-aspartate (NMDA)-type glutamate receptors. It is a pediatric anesthetic and has been implicated in developmental neurotoxicity. Ketamine has also been shown to deplete ATP in mammalian cells. Our previous studies showed that acetyl l-carnitine (ALCAR) prevented ketamine-induced cardiotoxicity and neurotoxicity in zebrafish embryos. Based on our finding that ALCAR's protective effect was blunted by oligomycin A, an inhibitor of ATP synthase, we further investigated the effects of ketamine and ALCAR on ATP levels, mitochondria and ATP synthase in zebrafish embryos...
December 7, 2017: Neurotoxicology and Teratology
Prashant Jauhari, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. PDHA1 gene sequencing revealed a pathological homozygous missense mutation c.131A>G or p.H44R in exon 3 consistent with PDHC deficiency. H44R is among the five mutations (H44R, R88S, G89S, R263G, and V389fs) in E1α subunit that is thiamine-responsive...
July 2017: Journal of Pediatric Neurosciences
Francesca Perin, María Del Mar Rodríguez-Vázquez Del Rey, Carmen Carreras-Blesa, Luisa Arrabal-Fernández, Juan Jiménez-Jáimez, Luis Tercedor
No abstract text is available yet for this article.
November 30, 2017: Revista Española de Cardiología
Demet Alaygut, Meral Torun Bayram, Belde Kasap, Alper Soylu, Mehmet Türkmen, Salih Kavukcu
AIM: To investigate different etiologies and management of the rhabdomyolysis in children. METHODS: Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment...
November 8, 2017: World Journal of Clinical Pediatrics
Paula Sánchez-Pintos, Maria-Jose de Castro, Iria Roca, Segundo Rite, Miguel López, Maria-Luz Couce
Large for gestational age (LGA) newborns have an increased risk of obesity, insulin resistance, and metabolic syndrome. Acylcarnitine profiles in obese children and adults are characterized by increased levels of C3, C5, and certain medium-chain (C12) and long-chain (C14:1 and C16) acylcarnitines. C2 is also increased in insulin-resistant states. In this 1-year observational study of 2514 newborns (246 LGA newborns, 250 small for gestational age (GA) newborns, and 2018 appropriate for GA newborns), we analyzed and compared postnatal acylcarnitine profiles in LGA newborns with profiles described for obese individuals...
November 24, 2017: Scientific Reports
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