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Creatine deficiency

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https://www.readbyqxmd.com/read/28612295/neuroprotective-effect-of-creatine-and-pyruvate-on-enzyme-activities-of-phosphoryl-transfer-network-and-oxidative-stress-alterations-caused-by-leucine-administration-in-wistar-rats
#1
Elenara Rieger, Itiane Diehl de Franceschi, Thales Preissler, Clovis Milton Duval Wannmacher
Maple syrup urine disease is an autosomal metabolic disease caused by a deficiency of branched-chain α-keto acid dehydrogenase complex activity. In this disease occur the accumulation of the branched-chain amino acids leucine, isoleucine, and valine and their corresponding branched-chain α-keto acids in the tissues and body fluids. The affected patients may present psychomotor development delay and mental retardation. The pathophysiology of maple syrup urine disease is not entirely understood, but leucine seems to be the primary neurotoxic metabolite...
June 13, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28604960/-analysis-of-uqcrb-gene-mutation-in-a-child-with-mitochondrial-complex-iii-deficiency
#2
Ting Zhang, Fang Hong, Guling Qian, Fan Tong, Xuelian Zhou, Xiaolei Huang, Rulai Yang, Xinwen Huang
OBJECTIVE: To delineate the clinical, biochemical and genetic mutational characteristics of a child with mitochondrial complex III deficiency. METHODS: Clinical information and results of auxiliary examination of the patient were analyzed. Next-generation sequencing of the mitochondrial genome and related nuclear genes was carried out. Suspected mutation was confirmed in both parents with Sanger sequencing. Heterozygous deletion was mapped with chromosomal microarray analysis and confirmed with real-time PCR...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28566803/greater-muscle-damage-in-athletes-with-actn3-r577x-rs1815739-gene-polymorphism-after-an-ultra-endurance-race-a-pilot-study
#3
T Belli, A H Crisp, R Verlengia
In this study, we aimed to investigate the influence of ACTN3 R577X gene polymorphism on muscle damage responses in athletes competing in an ultra-endurance race. Twenty moderate to well-trained ultra-runners who had entered in an official 37.1 km adventure race (22.1 km mountain biking, 10.9 km trekking, 4.1 km water trekking, 30 m rope course, and orienteering) volunteered for the study. Blood samples were collected for genotyping and analysis of muscle protein levels before and after the race. Percentage changes (pre- to post-race) of serum myoglobin [XX = 5,377% vs...
June 2017: Biology of Sport
https://www.readbyqxmd.com/read/28557663/dietary-supplement-intake-and-associated-factors-among-gym-users-in-a-university-community
#4
Amita Attlee, Amina Haider, Asma Hassan, Noura Alzamil, Mona Hashim, Reyad Shaker Obaid
Dietary supplement intake and associated factors among gym users in a university community in Sharjah, United Arab Emirates (UAE), were assessed using a structured, self-administered questionnaire in this cross-sectional study. Adults (N = 320) from five gyms in the University City of Sharjah participated in this cross-sectional study. The prevalence of dietary supplement intake was 43.8%. Statistically significant associations were found between the use of dietary supplements and sex (47.7% males, 28.1% females; p = ...
May 30, 2017: Journal of Dietary Supplements
https://www.readbyqxmd.com/read/28554556/dramatic-elevation-in-urinary-amino-terminal-titin-fragment-excretion-quantified-by-immunoassay-in-duchenne-muscular-dystrophy-patients-and-in-dystrophin-deficient-rodents
#5
Alan S Robertson, Mark J Majchrzak, Courtney M Smith, Robert C Gagnon, Nino Devidze, Glen B Banks, Sean C Little, Fizal Nabbie, Denise I Bounous, Janet DiPiero, Leslie K Jacobsen, Linda J Bristow, Michael K Ahlijanian, Stephen A Stimpson
Enzyme-linked and electrochemiluminescence immunoassays were developed for quantification of amino (N-) terminal fragments of the skeletal muscle protein titin (N-ter titin) and qualified for use in detection of urinary N-ter titin excretion. Urine from normal subjects contained a small but measurable level of N-ter titin (1.0 ± 0.4 ng/ml). A 365-fold increase (365.4 ± 65.0, P = 0.0001) in urinary N-ter titin excretion was seen in Duchene muscular dystrophy (DMD) patients. Urinary N-ter titin was also evaluated in dystrophin deficient rodent models...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28536085/interaction-between-the-effects-of-the-selective-estrogen-modulator-femarelle-and-a-vitamin-d-analog-in-human-umbilical-artery-vascular-smooth-muscle-cells
#6
Dalia Somjen, Esther Knoll, Orli Sharon, Ariel Many, Naftali Stern
To further investigate the interaction between vitamin D system and estrogen-mimetic compounds in the human vasculature we studied the effect of the "less- calcemic" analog of 1,25(OH)2D3 (1,25D); JK 1624F2-2 (JKF) in the presence of selective estrogen modulator femarelle (F), the phytoestrogen daidzein (D) and estradiol-17b (E2) on (3)[H] thymidine incorporation (DNA synthesis) and creatine kinase specific activity (CK) in human umbilical artery vascular smooth muscle cells (VSMC). F, D and E2, stimulated DNA synthesis at low concentrations, and inhibited it at high concentrations...
May 20, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28529047/bezafibrate-prevents-mitochondrial-dysfunction-antioxidant-system-disturbance-glial-reactivity-and-neuronal-damage-induced-by-sulfite-administration-in-striatum-of-rats-implications-for-a-possible-therapeutic-strategy-for-sulfite-oxidase-deficiency
#7
Mateus Grings, Alana Pimentel Moura, Belisa Parmeggiani, Julia Tauna Pletsch, Gabriela Miranda Fernandez Cardoso, Pauline Maciel August, Cristiane Matté, Angela T S Wyse, Moacir Wajner, Guilhian Leipnitz
Sulfite accumulates in tissues of patients affected by sulfite oxidase (SO) deficiency, a neurometabolic disease characterized by seizures and progressive encephalopathy, often resulting in early death. We investigated the effects of sulfite on mitochondrial function, antioxidant system, glial reactivity and neuronal damage in rat striatum, as well as the potential protective effects of bezafibrate on sulfite-induced toxicity. Thirty-day-old rats were intrastriatally administered with sulfite (2μmol) or NaCl (2μmol; control) and euthanized 30min after injection for evaluation of biochemical parameters and western blotting, or 7days after injection for analysis of glial reactivity and neuronal damage...
May 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28508091/-mr-spectroscopy-in-metabolic-disorders-of-the-brain
#8
REVIEW
U Yilmaz
CLINICAL ISSUE: Metabolic disorders of the brain often present a particular challenge for the neuroradiologist, since the disorders are rare, changes on conventional MR are often non-specific and there are numerous differential diagnoses for the white substance lesions. STANDARD RADIOLOGICAL METHODS: As a complementary method to conventional brain MRI, MR spectroscopy may help to reduce the scope of the differential diagnosis. Entities with specific MR spectroscopy patterns are Canavan disease, maple syrup urine disease, nonketotic hyperglycinemia and creatine deficiency...
June 2017: Der Radiologe
https://www.readbyqxmd.com/read/28489032/clinical-significance-and-prognostic-effect-of-serum-25-hydroxyvitamin-d-concentrations-in-critical-and-severe-hand-foot-and-mouth-disease
#9
Hong-Xing Dang, Cheng-Jun Liu, Jing Li, Shi-Jiao Chen, Feng Xu
OBJECTIVE: To examine the association of serum 25-hydroxyvitamin D [25(OH)D] concentrations with critical and severe hand, foot and mouth disease (HFMD) and assess the clinical significance and prognostic effect of 25(OH)D concentrations in children with HFMD. METHODS: This is a prospective observational study. The 138 children with HFMD were divided into common (49 cases), severe (52 cases), and critical (37 cases) HFMD groups. Another 59 healthy children undergoing outpatient medical examinations during the same period were chosen as the control group...
May 10, 2017: Nutrients
https://www.readbyqxmd.com/read/28442927/mechanical-factors-and-vitamin-d-deficiency-in-schoolchildren-with-low-back-pain-biochemical-and-cross-sectional-survey-analysis
#10
Ahmad H Alghadir, Sami A Gabr, Einas S Al-Eisa
OBJECTIVE: This study was designed to evaluate the role of vitamin D, muscle fatigue biomarkers, and mechanical factors in the progression of low back pain (LBP) in schoolchildren. BACKGROUND: Children and adolescents frequently suffer from LBP with no clear clinical causes, and >71% of schoolchildren aged 12-17 years will show at least one episode of LBP. MATERIALS AND METHODS: A total of 250 schoolchildren aged 12-16 years were randomly enrolled in this study...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28441831/-a-case-of-creatine-deficiency-syndromes-caused-by-gamt-gene-mutation
#11
L Yang, F Fang
No abstract text is available yet for this article.
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28438604/first-reported-chinese-case-of-guanidinoacetate-methyltransferase-deficiency-in-a-4-year-old-child
#12
Weihua Sun, Yi Wang, Zhen Zu, Yi Jiang, Wei Lu, Huijun Wang, Bingbing Wu, Ping Zhang, Xiaomin Peng, Hao Zhou
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare inherited disorder characterized by creatine (Cr) depletion and guanidinoacetate (GAA) accumulation in body fluids. We report the first identified Chinese case, diagnosed in a 4-year-old girl with onset of global developmental. Low Cr and high GAA levels were detected in her serum and urine, and low Cr level in her brain. Compound heterozygous variants in GAMT gene were found, including a previously reported variant at c.491dupG which was inherited from her mother and a novel variant at c...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28417315/disruption-of-energy-transfer-and-redox-status-by-sulfite-in-hippocampus-striatum-and-cerebellum-of-developing-rats
#13
Leonardo de Moura Alvorcem, Mateus Struecker da Rosa, Nícolas Manzke Glänzel, Belisa Parmeggiani, Mateus Grings, Felipe Schmitz, Angela T S Wyse, Moacir Wajner, Guilhian Leipnitz
Patients with sulfite oxidase (SO) deficiency present severe brain abnormalities, whose pathophysiology is not yet elucidated. We evaluated the effects of sulfite and thiosulfate, metabolites accumulated in SO deficiency, on creatine kinase (CK) activity, mitochondrial respiration and redox status in hippocampus, striatum and cerebellum of developing rats. Our in vitro results showed that sulfite and thiosulfate decreased CK activity, whereas sulfite also increased malondialdehyde (MDA) levels in all brain structures evaluated...
April 17, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28405636/when-transporters-fail-to-be-transported-how-to-rescue-folding-deficient-slc6-transporters
#14
Sonja Sucic, Ameya Kasture, H M Mazhar Asjad, Carina Kern, Ali El-Kasaby, Michael Freissmuth
The human dopamine transporter (hDAT) belongs to the solute carrier 6 (SLC6) gene family. Point mutations in hDAT (SLC6A3) have been linked to a syndrome of dopamine transporter deficiency or infantile dystonia/parkinsonism. The mutations impair DAT folding, causing retention of variant DATs in the endoplasmic reticulum and subsequently impair transport activity. The folding trajectory of DAT itself is not understood, though many insights have been gained from studies of folding-deficient mutants of the closely related serotonin transporter (SERT); i...
December 30, 2016: Journal of Neurology & Neuromedicine
https://www.readbyqxmd.com/read/28392102/creatine-phosphate-administration-in-cell-energy-impairment-conditions-a-summary-of-past-and-present-research
#15
REVIEW
A V Gaddi, P Galuppo, J Yang
BACKGROUND: Creatine phosphate (CrP) plays a fundamental physiological role by providing chemical energy for cell viability and activity, especially in muscle tissue. Numerous pathological conditions, caused by acute or chronic ischaemic situations, are related to its deficiency. For these reasons, it has been used as a cardioprotective agent in heart surgery and medical cardiology for many years. OBJECTIVE: This article gives a brief overview of the main characteristics of exogenous CrP...
March 14, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28306393/circannual-rhythm-of-plasmatic-vitamin-d-levels-and-the-association-with-markers-of-psychophysical-stress-in-a-cohort-of-italian-professional-soccer-players
#16
Giovanni Lombardi, Jacopo Antonino Vitale, Sergio Logoluso, Giovanni Logoluso, Nino Cocco, Giulio Cocco, Antonino Cocco, Giuseppe Banfi
Adequate plasmatic Vitamin D levels are crucial to maintain calcium homeostasis and bone metabolism both in the general population and in athletes. Correct dietary supply and a regular sun exposure are fundamental for allowing the desired and effective fitness level. Past studies highlighted a scenario of Vitamin D insufficiency among professional soccer players in several countries, especially in North Europe, whilst a real deficiency in athletes is rare. The typical seasonal fluctuations of Vitamin D are wrongly described transversally in athletes belonging to teams that play at different latitudes and a chronobiologic approach studying the Vitamin D circannual rhythm in soccer players has not been described yet...
2017: Chronobiology International
https://www.readbyqxmd.com/read/28284983/systemic-aav-mediated-%C3%AE-sarcoglycan-delivery-targeting-cardiac-and-skeletal-muscle-ameliorates-histological-and-functional-deficits-in-lgmd2e-mice
#17
Eric R Pozsgai, Danielle A Griffin, Kristin N Heller, Jerry R Mendell, Louise R Rodino-Klapac
Limb-girdle muscular dystrophy type 2E (LGMD2E), resulting from mutations in β-sarcoglycan (SGCB), is a progressive dystrophy with deteriorating muscle function, respiratory failure, and cardiomyopathy in 50% or more of LGMD2E patients. SGCB knockout mice share many of the phenotypic deficiencies of LGMD2E patients. To investigate systemic SGCB gene transfer to treat skeletal and cardiac muscle deficits, we designed a self-complementary AAVrh74 vector containing a codon-optimized human SGCB transgene driven by a muscle-specific promoter...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28284393/epilepsy-in-inborn-errors-of-metabolism-with-therapeutic-options
#18
Jaume Campistol
Inborn errors of metabolism (IEM) are rare conditions that represent more than 1000 diseases, with a global prevalence of approximately 1:2000 individuals. Approximately, 40%-60% of IEM may present with epilepsy as one of the main neurologic signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological mechanisms may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitochondrial and fatty oxidation disorders, GLUT-1, and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284390/creatine-defects-and-central-nervous-system
#19
Carmen Fons, Jaume Campistol
Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an early diagnosis and treatment is essential. The aim of this article is to review the Cr metabolism and function in the central nervous system. We describe the optimal diagnostic protocol in Cr deficiency syndromes based on biochemical methods, neuroradiological (1H-MRS), and molecular analysis...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28257650/subcutaneous-immunoglobulins-for-the-treatment-of-a-patient-with-antisynthetase-syndrome-and-secondary-chronic-immunodeficiency-after-anti-cd20-treatment-a-case-report
#20
Patrick Cherin, Christophe de Jaeger, Jean-Charles Crave, Jean-Christophe Delain, Abir Tadmouri, Zahir Amoura
BACKGROUND: Antisynthetase syndrome is a rare and debilitating multiorgan disease characterized by inflammatory myopathy, interstitial lung disease, cutaneous involvement, and frequent chronic inflammation of the joints. Standard treatments include corticosteroids and immunosuppressants. In some cases, treatment resistance may develop. Administration of immunoglobulins intravenously is recommended in patients with drug-resistant antisynthetase syndrome. CASE PRESENTATION: Here, we describe the case of a 56-year-old woman of Algerian origin...
March 4, 2017: Journal of Medical Case Reports
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