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Carnitine deficiency

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https://www.readbyqxmd.com/read/28810230/a-novel-hydrophilic-interaction-liquid-chromatography-method-for-the-determination-of-underivatized-amino-acids-in-alimentary-supplements
#1
Thomas Themelis, Roberto Gotti, Rita Gatti
Amino acids playing important roles in metabolic processes are often included in dietary supplements whose use has largely expanded over the last 20 years not only in patients with particular deficiencies, but also in athletes and even common people that want to enrich their regular daily diet. In the present study, a bare silica Kinetex core-shell 2.6μm HILIC column was used for separation of some important hydrophilic amino acids and amino acids-like molecules i.e., aspartic acid, creatine, carnitine, arginine and the tripeptide glutathione (GSH), by optimizing the chromatographic conditions for their determination in complex alimentary supplements...
August 4, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28801073/newborn-screening-for-carnitine-palmitoyltransferase-ii-deficiency-using-c16-c18-1-c2-evaluation-of-additional-indices-for-adequate-sensitivity-and-lower-false-positivity
#2
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Satoshi Okada, Nobuo Sakura, Shinsuke Maruyama, Atsuko Noguchi, Tomonari Awaya, Mika Ishige, Nobuyuki Ishige, Ikuma Musha, Sayaka Ajihara, Akira Ohtake, Etsuo Naito, Yusuke Hamada, Tomotaka Kono, Tomoko Asada, Hideo Sasai, Toshiyuki Fukao, Ryoji Fujiki, Osamu Ohara, Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi, Masaki Takayanagi, Ikue Hata, Yosuke Shigematsu, Masao Kobayashi
BACKGROUND: Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established partly because reliable indices are not available. METHODS: We diagnosed CPT II deficiency in a 7-month-old boy presenting with hypoglycemic encephalopathy, which apparently had been missed in the NBS using C16 and C18:1 concentrations as indices...
July 31, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28774370/-recurrent-anorexia-and-pigmentation-of-skin-for-more-than-two-months-in-an-infant
#3
Zhang-Qian Zheng, Bing-Bing Wu, Miao-Ying Zhang, Wei Lu, Fei-Hong Luo
A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 - p21.1) and confirmed the diagnosis of complex glycerol kinase deficiency (cGKD). He was treated with hydrocortisone, coenzyme Q10 and L-carnitine and was subsequently followed up for 4 years. His serum cortisol levels returned to normal one week later after treatment, but the serum creatine kinase, triglyceride and aminotransferase levels were progressively increased along with mental retardation and decreased muscular strength...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28772033/associations-between-acylcarnitine-to-free-carnitine-ratio-and-adverse-prognosis-in-heart-failure-patients-with-reduced-or-preserved-ejection-fraction
#4
Akiomi Yoshihisa, Shunsuke Watanabe, Tetsuro Yokokawa, Tomofumi Misaka, Takamasa Sato, Satoshi Suzuki, Masayoshi Oikawa, Atsushi Kobayashi, Yasuchika Takeishi
AIMS: The failing heart is accompanied by disturbed energy metabolism with mitochondrial dysfunction. Carnitine transports fatty acids into mitochondria for β-oxidation. Decreased myocardial carnitine levels accompanied by increased plasma carnitine levels in heart failure (HF) have been reported. The plasma acylcarnitine to free carnitine ratio (AC/FC) is recognized as a marker of carnitine deficiency. We aimed to investigate the impact of the AC/FC on HF prognosis, taking into consideration differences between HF patients with preserved ejection fraction (HFpEF) and those with reduced ejection fraction (HFrEF)...
August 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/28753539/clinical-features-and-genotyping-of-patients-with-primary-carnitine-deficiency-identified-by-newborn-screening
#5
Yun Sun, Yan-Yun Wang, Tao Jiang
BACKGROUND: The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS). METHODS: Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven patients with PCD were diagnosed among 62,568 samples. The SLC22A5 gene was detected by using diagnosis panel of genetic and metabolic diseases based on Ion Torrent Semiconductor Sequencing Technology...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28748224/utility-of-genetic-testing-for-confirmation-of-abnormal-newborn-screening-in-disorders-of-long-chain-fatty-acids-a-missed-case-of-carnitine-palmitoyltransferase-1a-cpt1a-deficiency
#6
Leah Dowsett, Lauren Lulis, Can Ficicioglu, Sanmati Cuddapah
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency-a rare autosomal recessive disorder of long-chain fatty acid oxidation...
June 2017: International Journal of Neonatal Screening
https://www.readbyqxmd.com/read/28745680/-the-decreased-level-of-plasma-carnitine-in-patients-with-epilepsy
#7
E D Belousova
Antiepileptic drugs (AEDs) have long been known to affect carnitine metabolism, dropping the plasma free carnitine. Valproate (VPA) was considered to be the strongest carnitine-reducing agent. VPA-induced hyperammonemic encephalopathy and hepatotoxicity are well known, and pre-existing carnitine deficiency can be a predisposing factor, especially in congenital metabolic disorders. Several studies have shown that carnitine supplementation in patients receiving VPA to result in subjective and objective improvements and to prevent VPA-induced hepatotoxicity and encephalopathy, in parallel with increases in carnitine serum concentrations...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28739175/sudden-infant-death-from-neonate-carnitine-palmitoyl-transferase-ii-deficiency
#8
Si-Hao Du, Fu Zhang, Yan-Geng Yu, Chuan-Xiang Chen, Hui-Jun Wang, Dong-Ri Li
A full-term female baby born to parents who gave birth three years prior to a girl who survived only 31h postpartum died 36h after birth. An autopsy showed that the heart was markedly hypertrophic (32g). Microscopically, the myocardium, liver and kidney cells exhibited extensive vacuolar degeneration. Sudan III staining was positive in cardiac muscle, liver and kidney tissue. Tandem mass spectrometry analysis revealed that the deceased patient had a carnitine palmitoyl transferase II (CPT2) deficiency or a carnitine-acylcarnitine translocase deficiency...
June 27, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28728265/-mass-spectrometry-combined-with-gene-analysis-for-prenatal-diagnosis-of-glutaric-acidemia-type-%C3%A2
#9
F Han, L S Han, W J Ji, T Chen, F Xu, Y Wang, J Ye, W J Qiu, H W Zhang, Y Z Jiang, C Hou, X F Gu
Objective: To investigate the value of amniotic fluid metabolite detection by mass spectrometry combined with gene mutation analysis in the prenatal diagnosis of glutaric acidemia type Ⅰ (GA-Ⅰ). Method: From January 2009 to December 2016, Department of Pediatric Endocrinology and Genetic, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine carried out prenatal diagnosis for 24 cases of pregnant women with GA-Ⅰproband. 24 pregnant women without organic acidemia proband for conventional prenatal diagnosis at the same period were used as the control group...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28727124/similar-effects-of-lysine-deficiency-in-muscle-biochemical-characteristics-of-fatty-and-lean-piglets
#10
P Palma-Granados, A Haro, I Seiquer, L Lara, J F Aguilera, R Nieto
The main objective of this work was to investigate the effects of feeding Lys-deficient diets on muscle biochemical characteristics, particularly intramuscular fat concentration and fatty acid profile, in a fatty (Iberian) and a conventional pig genotype (Landrace × Large White [LDW]) maintained in identical experimental conditions. Performance and plasma metabolite changes were also monitored. Twenty-eight barrows of 10 kg initial BW, 14 of Iberian and 14 of LDW breed, were randomly assigned to each of 2 experimental diets in a 2 × 2 factorial arrangement (2 breeds × 2 diets)...
July 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28723568/loss-of-hepatic-mitochondrial-long-chain-fatty-acid-oxidation-confers-resistance-to-diet-induced-obesity-and-glucose-intolerance
#11
Jieun Lee, Joseph Choi, Ebru S Selen Alpergin, Liang Zhao, Thomas Hartung, Susanna Scafidi, Ryan C Riddle, Michael J Wolfgang
The liver has a large capacity for mitochondrial fatty acid β-oxidation, which is critical for systemic metabolic adaptations such as gluconeogenesis and ketogenesis. To understand the role of hepatic fatty acid oxidation in response to a chronic high-fat diet (HFD), we generated mice with a liver-specific deficiency of mitochondrial long-chain fatty acid β-oxidation (Cpt2(L-/-) mice). Paradoxically, Cpt2(L-/-) mice were resistant to HFD-induced obesity and glucose intolerance with an absence of liver damage, although they exhibited serum dyslipidemia, hepatic oxidative stress, and systemic carnitine deficiency...
July 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28719620/endurance-performance-and-energy-metabolism-during-exercise-in-mice-with-a-muscle-specific-defect-in-the-control-of-branched-chain-amino-acid-catabolism
#12
Minjun Xu, Yasuyuki Kitaura, Takuya Ishikawa, Yoshihiro Kadota, Chihaya Terai, Daichi Shindo, Takashi Morioka, Miki Ota, Yukako Morishita, Kengo Ishihara, Yoshiharu Shimomura
It is known that the catabolism of branched-chain amino acids (BCAAs) in skeletal muscle is suppressed under normal and sedentary conditions but is promoted by exercise. BCAA catabolism in muscle tissues is regulated by the branched-chain α-keto acid (BCKA) dehydrogenase complex, which is inactivated by phosphorylation by BCKA dehydrogenase kinase (BDK). In the present study, we used muscle-specific BDK deficient mice (BDK-mKO mice) to examine the effect of uncontrolled BCAA catabolism on endurance exercise performance and skeletal muscle energy metabolism...
2017: PloS One
https://www.readbyqxmd.com/read/28711408/biochemical-characteristics-of-newborns-with-carnitine-transporter-defect-identified-by-newborn-screening-in-california
#13
N M Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, G M Enns, S Packman, H J Lin, W R Wilcox, S D Cederbaum, J E Abdenur
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn carnitine levels can also be caused by conditions unrelated to CTD, such as the low carnitine levels often associated with normal pregnancies and some metabolic disorders occurring in the mother...
July 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28703319/brain-carnitine-deficiency-causes-nonsyndromic-autism-with-an-extreme-male-bias-a-hypothesis
#14
REVIEW
Arthur L Beaudet
Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention. That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism...
August 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28689437/the-effect-of-antiepileptic-drugs-on-the-kidney-function-and-structure
#15
Sherifa Ahmed Hamed
Long-term use of antiepileptic drugs (AEDs) is associated with number of somatic conditions. Data from experimental, cross-sectional and prospective studies have evidence for the deleterious effect of some AEDs on the kidney. Areas covered: This review summarized the current knowledge of the effect of AEDs on the kidney including evidence and mechanisms. Fanconi syndrome was reported with valproate (VPA) therapy in severely disabled children with epilepsy. Renal tubular acidosis and urolithiasis were reported with acetazolamide, topirmate and zonisamide, drugs with carbonic anhydrase inhibition properties...
July 26, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28689308/triheptanoin-a-rescue-therapy-for-cardiogenic-shock-in-carnitine-acylcarnitine-translocase-deficiency
#16
Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, Mihaela Damian, Gregory M Enns
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare long-chain fatty acid oxidation disorder (LC-FAOD) with high mortality due to cardiomyopathy or lethal arrhythmia. Triheptanoin (UX007), an investigational drug composed of synthetic medium odd-chain triglycerides, is a novel therapy in development for LC-FAOD patients. However, cases of its safe and efficacious use to reverse severe heart failure in CACT deficiency are limited. Here, we present a detailed report of an infant with CACT deficiency admitted in metabolic crisis that progressed into severe cardiogenic shock who was successfully treated by triheptanoin...
July 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28685493/peripheral-neuropathy-episodic-rhabdomyolysis-and-hypoparathyroidism-in-a-patient-with-mitochondrial-trifunctional-protein-deficiency
#17
Peter van Vliet, Annelies E Berden, Mojca K M van Schie, Jaap A Bakker, Christian Heringhaus, Irenaeus F M de Coo, Mirjam Langeveld, Marielle A Schroijen, M Sesmu Arbous
A combination of unexplained peripheral neuropathy, hypoparathyroidism, and the inability to cope with metabolic stress could point to a rare inborn error of metabolism, such as mitochondrial trifunctional protein (MTP) deficiency.Here, we describe a 20-year-old woman who was known since childhood with axonal motor sensory polyneuropathy of unknown origin. She presented with progressive dyspnoea, and increased muscle weakness, preceded by 6 days of fever, vomiting, and diarrhoea. Laboratory testing showed rhabdomyolysis, and hypocalcaemia with low parathyroid levels...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28685490/successful-pregnancy-in-a-young-woman-with-multiple-acyl-coa-dehydrogenase-deficiency
#18
Annalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, Giulia Frisso, Giancarlo Parenti, Brunella Capaldo
Multiple acyl-CoA dehydrogenation deficiency (MADD) is an inborn disorder of fatty acid oxidation due to a defect in electron transfer to the respiratory chain. We describe the medical/nutritional management of a successful pregnancy in a 19-year-old woman with a known diagnosis of MADD. A high-carbohydrate, low-fat, six-meal diet supplemented with protein was prescribed to meet the nutritional needs during pregnancy. L-Carnitine supplementation was also progressively increased over the weeks. Serum acyl-carnitine profile revealed raised levels of chain-length C6-C14, which remained substantially unchanged during pregnancy...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28668962/acute-exercise-stimulates-carnitine-biosynthesis-and-octn2-expression-in-mouse-kidney
#19
Tom L Broderick, Frank A Cusimano, Chelsea Carlson, Leslie K Tamura
BACKGROUND/AIMS: Carnitine is essential for the transport of long-chain FAs (FA) into the mitochondria for energy production. During acute exercise, the increased demand for FAs results in a state of free carnitine deficiency in plasma. The role of kidney in carnitine homeostasis after exercise is not known. METHODS: Swiss Webster mice were sacrificed immediately after a 1-hour moderate intensity treadmill run, and at 4-hours and 8-hours into recovery. Non-exercising mice served as controls...
June 27, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/28653367/significance-of-l-carnitine-for-human-health
#20
REVIEW
María M Adeva-Andany, Isabel Calvo-Castro, Carlos Fernández-Fernández, Cristóbal Donapetry-García, Ana María Pedre-Piñeiro
Carnitine acyltransferases catalyze the reversible transfer of acyl groups from acyl-coenzyme A esters to l-carnitine, forming acyl-carnitine esters that may be transported across cell membranes. l-Carnitine is a wáter-soluble compound that humans may obtain both by food ingestion and endogenous synthesis from trimethyl-lysine. Most l-carnitine is intracellular, being present predominantly in liver, skeletal muscle, heart and kidney. The organic cation transporter-2 facilitates l-carnitine uptake inside cells...
August 2017: IUBMB Life
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