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Carnitine deficiency

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https://www.readbyqxmd.com/read/29767664/biochemical-and-molecular-characterization-of-3-methylcrotonylglycinuria-in-an-italian-asymptomatic-girl
#1
Carla Cozzolino, Guglielmo Rd Villani, Giulia Frisso, Emanuela Scolamiero, Lucia Albano, Giovanna Gallo, Roberta Romanelli, Margherita Ruoppolo
3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine...
May 14, 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29750726/slc22a5-mutations-in-a-patient-with-systemic-primary-carnitine-deficiency-and-cleft-palate-successful-perioperative-management
#2
Ching-Wei Hu, Ching-Hsuan Hu, Yah-Huei Wu-Chou, Lun-Jou Lo
BACKGROUND: Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes renal carnitine wasting and low serum carnitine. Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria. Lacking of carnitine may cause metabolic decompensation and sudden death when the patient is exposed to prolonged fasting before an operation...
May 10, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29744303/recurrent-rhabdomyolysis-caused-by-carnitine-palmitoyltransferase-ii-deficiency-common-but-under-recognised-lessons-to-be-learnt
#3
M Balasubramanian, T M Jenkins, R J Kirk, I M Nesbitt, S E Olpin, M Hill, G T Gillett
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29731937/carnitine-palmitoyltransferase-ii-deficiency-cpt-ii-followed-by-rhabdomyolysis-and-acute-kidney-injury
#4
Nikola Gjorgjievski, Pavlina Dzekova-Vidimliski, Zvezdana Petronijevic, Gjulsen Selim, Petar Dejanov, Liljana Tozija, Aleksandar Sikole
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common "classic" myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness. CASE PRESENTATION: We present a case of a 22-year-old Caucasian male admitted to our hospital with fever, dyspnea, fatigue, myalgia and dark urine (brown-coloured)...
April 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29731766/expanded-newborn-screening-for-inborn-errors-of-metabolism-and-genetic-characteristics-in-a-chinese-population
#5
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29725060/cpt1c-promotes-human-mesenchymal-stem-cells-survival-under-glucose-deprivation-through-the-modulation-of-autophagy
#6
Xavier Roa-Mansergas, Rut Fadó, Maher Atari, Joan F Mir, Helena Muley, Dolors Serra, Núria Casals
Human mesenchymal stem cells (hMSCs) are widely used in regenerative medicine. In some applications, they must survive under low nutrient conditions engendered by avascularity. Strategies to improve hMSCs survival may be of high relevance in tissue engineering. Carnitine palmitoyltransferase 1 C (CPT1C) is a pseudoenzyme exclusively expressed in neurons and cancer cells. In the present study, we show that CPT1C is also expressed in hMSCs and protects them against glucose starvation, glycolysis inhibition, and oxygen/glucose deprivation...
May 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29629695/carnitine-deficiency-in-chinese-children-with-epilepsy-on-valproate-monotherapy
#7
Li Qiliang, Song Wenqi, Jin Hong
OBJECTIVE: To explore the incidence and independent risk-factors of secondary carnitine deficiency in Chinese children with epilepsy on valproate monotherapy. METHODS: The free carnitine and acylcarnitines levels in 299 children with epilepsy on valproate monotherapy between June 2014 and September 2015 were compared with age- and sex-matched 299 healthy controls. RESULTS: Children with valproate monotherapy had lower free carnitine levels [23...
March 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29616582/kinetics-of-carnitine-concentration-after-switching-from-oral-administration-to-intravenous-injection-in-hemodialysis-patients
#8
Anna Suzuki, Yukinao Sakai, Kazumasa Hashimoto, Hirokazu Osawa, Shuichi Tsuruoka
Carnitine has high dialyzability and is often deficient in dialysis patients. This deficiency is treated by either intravenous (IV) or oral supplementation of carnitine. In this study, the mode of carnitine administration was changed from oral to IV in 17 hemodialysis (HD) patients, and the treatment was discontinued after 1 year. We found that the levels of total carnitine (TC), free-carnitine (FC), and acyl-carnitine (AC) significantly increased after 3 months of switching to IV administration (p < ...
November 2018: Renal Failure
https://www.readbyqxmd.com/read/29615056/patient-with-multiple-acyl-coa-dehydrogenase-deficiency-disease-and-etfdh-mutations-benefits-from-riboflavin-therapy-a-case-report
#9
Liuh Ling Goh, Yingshan Lee, Ee Shien Tan, James Soon Chuan Lim, Chia Wei Lim, Rinkoo Dalan
BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene. Whole exome sequencing (WES) with clinical correlations can be useful in identifying genomic alterations for targeted therapy. CASE PRESENTATION: We report a patient presented with severe muscle weakness and exercise intolerance, suggestive of LSM...
April 3, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29614331/carnitine-levels-and-mutations-in-the-slc22a5-gene-in-faroes-patients-with-parkinson-s-disease
#10
Súsanna A Crooks, Sára Bech, Jónrit Halling, Debes H Christiansen, Beate Ritz, Maria Skaalum Petersen
INTRODUCTION: Mitochondrial dysfunction, oxidative stress and energy production have been implicated in the etiology of Parkinson's disease (PD). Several agents are under investigation for potential neuroprotective effects including acetyl-l-carnitine (ALC). OBJECTIVE: To investigate whether low carnitine levels and mutations in the SLC22A5 gene encoding the carnitine transporter are associates with PD risk in the Faroe Islands where the prevalence of both PD and carnitine transporter deficiency (CTD) is high...
March 31, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29581464/whole-exome-sequencing-helps-the-diagnosis-and-treatment-in-children-with-neurodevelopmental-delay-accompanied-unexplained-dyspnea
#11
Wenjia Tong, Yajian Wang, Yun Lu, Tongsheng Ye, Conglei Song, Yuanyuan Xu, Min Li, Jie Ding, Yuanyuan Duan, Le Zhang, Weiyue Gu, Xiaoling Zhao, Xiu-An Yang, Danqun Jin
Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Eight genes namely MMACHC, G6PC, G6PT, ETFDH, OTC, NDUFAF5, SLC22A5, and MAGEL2 were suspected to be responsible for the onset of the clinical symptoms and 6 variants were novel...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29571016/the-role-of-nutrients-in-the-pathogenesis-and-treatment-of-migraine-headaches-review
#12
REVIEW
Elyas Nattagh-Eshtivani, Mahmood Alizadeh Sani, Monireh Dahri, Faezeh Ghalichi, Abed Ghavami, Pishva Arjang, Ali Tarighat-Esfanjani
OBJECTIVE: Migraine as a disabling neurovascular disease affects 6% of men and 18% of women worldwide. The deficiency of many nutrients including magnesium, niacin, riboflavin, cobalamin, coenzymes Q10, carnitine, α-lipoic acid and vitamin D is associated with migraine. Some researchers postulate that mitochondrial dysfunction and impaired antioxidant status can cause migraine. Also increase in homocysteine level can lead to migraine attacks; therefore, some Nutraceuticals play a vital role in migraine prevention...
June 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29552494/open-label-clinical-trial-of-bezafibrate-treatment-in-patients-with-fatty-acid-oxidation-disorders-in-japan
#13
Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
Introduction: Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods: This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29534088/age-dependent-changes-in-metabolic-profile-of-turkey-spermatozoa-as-assessed-by-nmr-analysis
#14
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
https://www.readbyqxmd.com/read/29519241/clinical-and-genetic-characteristics-of-patients-with-fatty-acid-oxidation-disorders-identified-by-newborn-screening
#15
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
https://www.readbyqxmd.com/read/29518608/rip3-deficience-attenuates-potassium-oxonate-induced-hyperuricemia-and-kidney-injury
#16
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...
May 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29512720/alogliptin-alleviates-hepatic-steatosis-in-a-mouse-model-of-nonalcoholic-fatty-liver-disease-by-promoting-cpt1a-expression-via-thr172-phosphorylation-of-ampk%C3%AE-in-the-liver
#17
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...
May 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29478820/fluxomic-assay-assisted-diagnosis-orientation-in-a-cohort-of-11-patients-with-myopathic-form-of-cpt2-deficiency
#18
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...
April 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29456846/l-carnitine-supplementation-reduces-the-general-fatigue-of-cancer-patients-during-chemotherapy
#19
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
https://www.readbyqxmd.com/read/29425111/the-safety-of-lipistart-a-medium-chain-triglyceride-based-formula-in-the-dietary-treatment-of-long-chain-fatty-acid-disorders-a-phase-i-study
#20
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)...
March 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
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