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https://www.readbyqxmd.com/read/29899766/actual-insights-into-treatable-inborn-errors-of-metabolism-causing-epilepsy
#1
REVIEW
Mario Mastrangelo
This review offers an update on a group of inborn errors of metabolism causing severe epilepsy with the onset in pediatric age (but also other neurological manifestations such as developmental delay or movement disorders) with available effective or potentially effective treatments. The main pathogenic and clinical features and general recommendations for the diagnostic and therapeutic workup of the following disorders are discussed: vitamin B6 -dependent epilepsies, cerebral folate deficiency, congenital disorders of serine metabolism, biotinidase deficiency, inborn errors of creatine metabolism, molybdenum cofactor deficiency, and glucose transporter 1 deficiency...
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29895548/primary-carnitine-deficiency-in-a-57-year-old-patient-with-recurrent-exertional-rhabdomyolysis
#2
Andoni Echaniz-Laguna, Valérie Biancalana, Pauline Gaignard, Jean-Baptiste Chanson
Rhabdomyolysis is an emergency requiring rapid diagnosis and suitable aetiological treatment. We describe the case of a 57-year-old man with recurrent exertional rhabdomyolysis who was diagnosed with systemic primary carnitine deficiency (SPCD). Clinical examination was normal, creatine kinase levels were elevated, plasma free carnitine concentration was mildly decreased, muscle biopsy demonstrated lipid accumulation, carnitine uptake in cultured fibroblasts was decreased and genetic analysis identified a homozygous pathologic c...
June 11, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29884358/hydrophilic-interaction-chromatography-coupled-to-tandem-mass-spectrometry-as-a-method-for-simultaneous-determination-of-guanidinoacetate-and-creatine
#3
Pavle Jovanov, Milan Vraneš, Marijana Sakač, Slobodan Gadžurić, Jovana Panić, Aleksandar Marić, Sergej Ostojić
The biosynthesis of creatine (Cr) is closely related to the bioavailability of guanidinoacetate (GAA). The lack of one or the other may compromise their role in the energy transport and cell signaling. A reliable estimate of their levels in biological samples is imperative since they are important markers of many metabolic disorders. Therefore, a new LC-MS/MS method for simultaneous determination and quantification of GAA and Cr by multiple reaction monitoring (MRM) mode was developed based on the hydrophilic interaction chromatography (HILIC) and response surface methodology (RSM) for the optimization of chromatographic parameters...
October 22, 2018: Analytica Chimica Acta
https://www.readbyqxmd.com/read/29843823/a-novel-canine-model-for-duchenne-muscular-dystrophy-dmd-single-nucleotide-deletion-in-dmd-gene-exon-20
#4
Sara Mata López, James J Hammond, Madison B Rigsby, Cynthia J Balog-Alvarez, Joe N Kornegay, Peter P Nghiem
BACKGROUND: Boys with Duchenne muscular dystrophy (DMD) have DMD gene mutations, with associated loss of the dystrophin protein and progressive muscle degeneration and weakness. Corticosteroids and palliative support are currently the best treatment options. The long-term benefits of recently approved compounds such as eteplirsen and ataluren remain to be seen. Dogs with naturally occurring dystrophinopathies show progressive disease akin to that of DMD. Accordingly, canine DMD models are useful for studies of pathogenesis and preclinical therapy development...
May 29, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29794729/limb-girdle-muscular-dystrophy-type-2b-misdiagnosed-as-polymyositis-at-the-early-stage-case-report-and-literature-review
#5
Chuan Xu, Jiajun Chen, Yingyu Zhang, Jia Li
RATIONALE: Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes. However, LGMD2B is rarely seen in clinical cases and may initially present as weakness of proximalpelvis muscles and muscles in the posterior compartments of thighs,which will then cause difficulty in running and limping during walking. Laboratory tests at an early stage of the disease often indicate an increased level of serum creatine kinase (CK)...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29789544/development-of-muscular-dystrophy-in-a-crispr-engineered-mutant-rabbit-model-with-frame-disrupting-ano5-mutations
#6
Tingting Sui, Li Xu, Yeh Siang Lau, Di Liu, Tingjun Liu, Yandi Gao, Liangxue Lai, Renzhi Han, Zhanjun Li
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family. Two independent lines of mice with complete disruption of ANO5 transcripts did not exhibit overt muscular dystrophy phenotypes; instead, one of these mice was observed to present with some abnormality in sperm motility. In contrast, a third line of ANO5-knockout (KO) mice with residual expression of truncated ANO5 expression was reported to display defective membrane repair and very mild muscle pathology...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29763467/natural-disease-history-of-the-dy2j-mouse-model-of-laminin-%C3%AE-2-merosin-deficient-congenital-muscular-dystrophy
#7
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have been identified for MDC1A, no treatment is yet available. There are many therapeutic approaches in development, but the lack of natural history data of the mouse model and standardized outcome measures makes it difficult to transit these pre-clinical findings to clinical trials...
2018: PloS One
https://www.readbyqxmd.com/read/29752955/skeletal-muscle-specific-sidt2-knockout-in-mice-induced-muscular-dystrophy-like-phenotype
#8
Huan Liu, Wenjun Jiang, Xueru Chen, Guoying Chang, Lei Zhao, Xihua Li, Huiwen Zhang
BACKGROUND: Sidt2 is an integral lysosomal membrane protein. Previously, we generated a Sidt2 global knockout mouse and found impaired insulin secretion, along with skeletal muscle pathology. METHODS: A mouse model with a muscle-specific knockout of the Sidt2 gene (Sidt2f/f Cre) had been generated, to which extensive morphologic study as well as functional study was applied to investigate the direct role of Sidt2 on skeletal muscle tissue in vivo. Secondly, the autophagy-lysosomal pathway was examined by Western blot and immunostaining...
May 9, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29752652/disruption-of-the-responsible-gene-in-a-phosphoglucomutase-1-deficiency-patient-by-homozygous-chromosomal-inversion
#9
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31...
May 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29745082/correlation-analysis-of-expressions-of-pten-and-p53-with-the-value-obtained-by-magnetic-resonance-spectroscopy-and-apparent-diffusion-coefficient-in-the-tumor-and-the-tumor-adjacent-area-in-magnetic-resonance-imaging-for-glioblastoma
#10
Yunyun Li, Feng Ji, Yuzhi Jiang, Ting Zhao, Chongfu Xu
PURPOSE: To explore the correlation of the expression levels of phosphate and tension homology deleted on chromosome ten (PTEN) and p53 of glioblastoma multiforme (GBM) with the value obtained by magnetic resonance spectroscopy (MRS) and apparent diffusion coefficient (ADC) in the tumor and the tumor-adjacent area in magnetic resonance imaging (MRI). METHODS: A total of 38 patients were operated for GBM. All the patients had received diffusion-weighted imaging (DWI) and MRS prior to surgery...
March 2018: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29731937/carnitine-palmitoyltransferase-ii-deficiency-cpt-ii-followed-by-rhabdomyolysis-and-acute-kidney-injury
#11
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/29721912/a-middle-eastern-founder-mutation-expands-the-genotypic-and-phenotypic-spectrum-of-mitochondrial-micu1-deficiency-a-report-of-13-patients
#12
Sara Musa, Wafaa Eyaid, Kimberli Kamer, Rehab Ali, Mariam Al-Mureikhi, Noora Shahbeck, Fatma Al Mesaifri, Nawal Makhseed, Zakkiriah Mohamed, Wafaa Ali AlShehhi, Vamsi K Mootha, Jane Juusola, Tawfeg Ben-Omran
MICU1 encodes a Ca2+ sensing, regulatory subunit of the mitochondrial uniporter, a selective calcium channel within the organelle's inner membrane. Ca2+ entry into mitochondria helps to buffer cytosolic Ca2+ transients and also activates ATP production within the organelle. Mutations in MICU1 have previously been reported in 17 children from nine families with muscle weakness, fatigue, normal lactate, and persistently elevated creatine kinase, as well as variable features that include progressive extrapyramidal signs, learning disabilities, nystagmus, and cataracts...
May 3, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29707938/novel-lama2-gene-mutations-associated-with-merosin-deficient-congenital-muscular-dystrophy
#13
Feyzollah Hashemi-Gorji, Vahid Reza Yassaee, Parisa Dashti, Mohammad Miryounesi
Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase, and normal magnetic resonance imaging before the age of six months Methods: Peripheral blood samples were collected from three unrelated patients and their families after obtaining their informed written consents...
April 30, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29656938/vitamin-d-deficiency-and-periprocedural-myocardial-infarction-in-patients-undergoing-percutaneous-coronary-interventions
#14
Monica Verdoia, Claudia Ceccon, Matteo Nardin, Harry Suryapranata, Giuseppe De Luca
Vitamin D deficiency has been implicated in the progression of atherosclerosis and acute thrombotic events. We aimed at evaluating the impact of vitamin D deficiency on periprocedural myocardial infarction (PMI) in patients undergoing percutaneous coronary interventions (PCI). We included 934 patients undergoing non-urgent PCI. Assessment of myocardial biomarkers was performed from 6 to 48 h after PCI. PMI was defined as Creatine Kinase-MB increase by 3 times the Upper Limit Normal or by 50% of an elevated baseline value, periprocedural myocardial damage as Troponin I increase by 3 × ULN or 50% of baseline...
March 4, 2018: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/29609020/up-regulation-of-nox1-nadph-oxidase-following-drug-induced-myocardial-injury-promotes-cardiac-dysfunction-and-fibrosis
#15
Kazumi Iwata, Kuniharu Matsuno, Ayumi Murata, Kai Zhu, Hitomi Fukui, Keiko Ikuta, Masato Katsuyama, Masakazu Ibi, Misaki Matsumoto, Makoto Ohigashi, Xiaopeng Wen, Jia Zhang, Wenhao Cui, Chihiro Yabe-Nishimura
Cardiac fibrosis is a common feature in failing heart and therapeutic strategy to halt the progression of fibrosis is highly needed. We here report on NOX1, a non-phagocytic isoform of superoxide-producing NADPH oxidase, which promotes cardiac fibrosis in a drug-induced myocardial injury model. A single-dose administration of doxorubicin (DOX) elicited cardiac dysfunction accompanied by increased production of reactive oxygen species and marked elevation of NOX1 mRNA in the heart. In mice deficient in Nox1 (Nox1-/Y ), cardiac functions were well retained and overall survival was significantly improved...
May 20, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29589768/ioc-consensus-statement-dietary-supplements-and-the-high-performance-athlete
#16
Ronald J Maughan, Louise M Burke, Jiri Dvorak, D Enette Larson-Meyer, Peter Peeling, Stuart M Phillips, Eric S Rawson, Neil P Walsh, Ina Garthe, Hans Geyer, Romain Meeusen, Luc van Loon, Susan M Shirreffs, Lawrence L Spriet, Mark Stuart, Alan Vernec, Kevin Currell, Vidya M Ali, Richard G M Budgett, Arne Ljungqvist, Margo Mountjoy, Yannis Pitsiladis, Torbjørn Soligard, Uğur Erdener, Lars Engebretsen
Nutrition usually makes a small but potentially valuable contribution to successful performance in elite athletes, and dietary supplements can make a minor contribution to this nutrition program. Nonetheless, supplement use is widespread at all levels of sport. Products described as supplements target different issues, including the management of micronutrient deficiencies, supply of convenient forms of energy and macronutrients, and provision of direct benefits to performance or indirect benefits such as supporting intense training regimens...
March 1, 2018: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/29552494/open-label-clinical-trial-of-bezafibrate-treatment-in-patients-with-fatty-acid-oxidation-disorders-in-japan
#17
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/29540367/ioc-consensus-statement-dietary-supplements-and-the-high-performance-athlete
#18
Ronald J Maughan, Louise M Burke, Jiri Dvorak, D Enette Larson-Meyer, Peter Peeling, Stuart M Phillips, Eric S Rawson, Neil P Walsh, Ina Garthe, Hans Geyer, Romain Meeusen, Lucas J C van Loon, Susan M Shirreffs, Lawrence L Spriet, Mark Stuart, Alan Vernec, Kevin Currell, Vidya M Ali, Richard Gm Budgett, Arne Ljungqvist, Margo Mountjoy, Yannis P Pitsiladis, Torbjørn Soligard, Uğur Erdener, Lars Engebretsen
Nutrition usually makes a small but potentially valuable contribution to successful performance in elite athletes, and dietary supplements can make a minor contribution to this nutrition programme. Nonetheless, supplement use is widespread at all levels of sport. Products described as supplements target different issues, including (1) the management of micronutrient deficiencies, (2) supply of convenient forms of energy and macronutrients, and (3) provision of direct benefits to performance or (4) indirect benefits such as supporting intense training regimens...
April 2018: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/29534088/age-dependent-changes-in-metabolic-profile-of-turkey-spermatozoa-as-assessed-by-nmr-analysis
#19
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/29524782/treatment-with-medium-chain-fatty-acids-milk-of-cd36-deficient-preschool-children
#20
Hironori Nagasaka, Ken-Ichi Hirano, Tohru Yorifuji, Haruki Komatsu, Tomonozumi Takatani, Ichiro Morioka, Satoshi Hirayama, Takashi Miida
OBJECTIVE: CD36 deficiency is characterized by limited cellular long chain fatty acid uptake in the skeletal and cardiac muscles and often causes energy crisis in these muscles. However, suitable treatment for CD36 deficiency remains to be established. The aim of this study was to evaluate the clinical and metabolic effects of medium chain triacylglycerols (MCTs) in two CD36-deficient preschool children who often developed fasting hypoglycemia and exercise-induced myalgia. METHODS: Fasting blood glucose, total ketone bodies, and free fatty acids were examined and compared for usual supper diets and for diets with replacement of one component with 2 g/kg of 9% MCT-containing milk (MCT milk)...
June 2018: Nutrition
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