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Inborn errors metabolism

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https://www.readbyqxmd.com/read/29318410/flux-analysis-of-inborn-errors-of-metabolism
#1
D-J Reijngoud
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited to study this. In this review the progress made in characterizing the altered metabolism will be presented...
January 9, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29303961/individualizing-treatment-approaches-for-epileptic-patients-with-glucose-transporter-type1-glut-1-deficiency
#2
REVIEW
Armond Daci, Adnan Bozalija, Fisnik Jashari, Shaip Krasniqi
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes...
January 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29302025/aprdx1-mutant-allele-causes-a-mmachc-secondary-epimutation-in-cblc-patients
#3
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K Chung, Pierre-Emmanuel Morange, D Sean Froese, Matthias R Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S Rosenblatt
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name "epi-cblC". The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of MMACHC in fibroblasts. MMACHC is flanked by CCDC163P and PRDX1, which are in the opposite orientation...
January 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29290639/protein-moonlighting-in-inborn-errors-of-metabolism-the-case-of-the-mitochondrial-acylglycerol-kinase
#4
Sander M Houten
No abstract text is available yet for this article.
November 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29285339/medium-chain-acyl-coa-dehydrogenase-deficiency-in-a-premature-infant
#5
Steven F Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed patients. We report premature birth of an MCADD affected infant and resultant management challenges. Nutritional support advanced from parenteral nutrition at 24 hours to enteral feeds. A NBS sample was collected day 2, positive results for MCADD was reported day six, and diagnostic tests were performed day seven...
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29282796/disease-causing-mutations-in-the-promoter-and-enhancer-of-the-ornithine-transcarbamylase-gene
#6
Yoon J Jang, Abigail L LaBella, Timothy P Feeney, Nancy Braverman, Mendel Tuchman, Hiroki Morizono, Nicholas Ah Mew, Ljubica Caldovic
The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle. About 10-15% of patients, clinically diagnosed with OTC deficiency (OTCD), lack identifiable mutations in the coding region or splice junctions of the OTC gene on routine molecular testing. We collected DNA from such patients via retrospective review and by prospective enrollment. In nine of 38 subjects (24%), we identified a sequence variant in the OTC regulatory regions...
December 27, 2017: Human Mutation
https://www.readbyqxmd.com/read/29279279/characterization-of-a-novel-variant-in-siblings-with-asparagine-synthetase-deficiency
#7
Stephanie J Sacharow, Elizabeth E Dudenhausen, Carrie L Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E Olson, Casie A Genetti, Pankaj B Agrawal, Robert McKenna, Michael S Kilberg
Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and severe, often medically refractory, epilepsy. Development is generally severely affected at birth. Tone is abnormal with axial hypotonia and progressive appendicular spasticity. Hyperekplexia has been reported. Neuroimaging typically demonstrates gyral simplification, abnormal myelination, and progressive cerebral atrophy...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29274890/molybdenum-cofactor-deficiency-type-a-prenatal-monitoring-using-mri
#8
Charlotte M A Lubout, Terry G J Derks, Linda Meiners, Jan Jaap Erwich, Klasien A Bergman, Roelineke J Lunsing, Guenter Schwarz, Alex Veldman, Francjan J van Spronsen
Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available. Because prenatal data is scarce, we report data of prenatal Magnetic Resonance Imaging (MRI) in two cases with MoCD-A demonstrating signs of possible early brain injury. Prenatal MRI can be used for monitoring in MoCD-A to guide decision-making in timing of delivery.
November 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29274129/newborn-screening-for-galactosaemia
#9
REVIEW
Rohollah Lak, Bahareh Yazdizadeh, Majid Davari, Mojtaba Nouhi, Roya Kelishadi
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula...
December 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29243196/chronic-mild-hyperhomocysteinemia-alters-inflammatory-and-oxidative-nitrative-status-and-causes-protein-dna-damage-as-well-as-ultrastructural-changes-in-cerebral-cortex-is-acetylsalicylic-acid-neuroprotective
#10
Daniella de S Moreira, Paula W Figueiró, Cassiana Siebert, Caroline A Prezzi, Francieli Rohden, Fatima C R Guma, Vanusa Manfredini, Angela T S Wyse
Homocysteine is a sulfur-containing amino acid derived from methionine metabolism. When plasma homocysteine levels exceed 10-15 μM, there is a condition known as hyperhomocysteinemia, which occur as a result of an inborn error of methionine metabolism or by non-genetic causes. Mild hyperhomocysteinemia is considered a risk factor for development of neurodegenerative diseases. The objective of the present study was to evaluate whether acetylsalicylic acid has neuroprotective role on the effect of homocysteine on inflammatory, oxidative/nitrative stress, and morphological parameters in cerebral cortex of rats subjected to chronic mild hyperhomocysteinemia...
December 14, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/29238959/cognition-in-childhood-dystonia-a-systematic-review
#11
REVIEW
Maraike A Coenen, Hendriekje Eggink, Marina A Tijssen, Jacoba M Spikman
AIM: Cognitive impairments have been established as part of the non-motor phenomenology of adult dystonia. In childhood dystonia, the extent of cognitive impairments is less clear. This systematic review aims to present an overview of the existing literature to elucidate the cognitive profile of primary and secondary childhood dystonia. METHOD: Studies focusing on cognition in childhood dystonia were searched in MEDLINE and PsychInfo up to October 2017. We included studies on idiopathic and genetic forms of dystonia as well as dystonia secondary to cerebral palsy and inborn errors of metabolism...
December 14, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29237388/crigler-najjar-syndrome-current-perspectives-and-the-application-of-clinical-genetics
#12
Ammar Ebrahimi, Fakher Rahim
Crigler-Najjar syndrome (CNS, OMIM: 218800) is the paradigm of an inborn error of metabolism and a rare genetic disease with an estimated incidence of 0.6-1.0 per million live births. Discrimination between CNS subtypes is usually done on the basis of the clinical criteria, such as response to phenobarbital treatment and other molecular and functional characteristics. The identification of four novel pathogenic mutations and the analysis of residual activity of missense in UGT1A1 gene are useful for clinical diagnosis, and may reveal a new insight in enzyme activity, whereas the identification of pathogenic mutations will accelerate genetic counseling for newly identified CNS patients...
December 13, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29230604/do-inborn-errors-of-metabolism-confer-or-impede-the-risk-of-diabetes
#13
EDITORIAL
Verena Peters, Jerry Vockley
No abstract text is available yet for this article.
December 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29227331/unravelling-new-pathways-of-sterol-metabolism-lessons-learned-from-in-born-errors-and-cancer
#14
Yuqin Wang, William J Griffiths
PURPOSE OF REVIEW: To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways. RECENT FINDINGS: Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals...
December 11, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29226552/spontaneously-regressing-brain-lesions-in-smith-lemli-opitz-syndrome
#15
An N Dang Do, Eva H Baker, Katherine E Warren, Simona E Bianconi, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. We present three individuals with SLOS and lesions in the basal ganglia or brainstem detected by MRI that were concerning for tumor formation...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29218437/d-lactic-acidosis-in-humans-systematic-literature-review
#16
Davide G A M Bianchetti, Giacomo S Amelio, Sebastiano A G Lava, Mario G Bianchetti, Giacomo D Simonetti, Carlo Agostoni, Emilio F Fossali, Gregorio P Milani
BACKGROUND: D-lactic acidosis is an uncommon and challenging form of metabolic acidosis that may develop in short bowel syndrome. It has been documented exclusively in case reports and small case series. METHODS: We performed a review of the literature in the National Library of Medicine and Excerpta Medica databases. RESULTS: We identified 84 original reports published between 1977 and 2017. D-lactic acidosis was observed in 98 individuals ranging in age from 7 months to 86 years with short bowel syndrome...
December 7, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29217372/acute-peritoneal-dialysis-in-neonatal-intensive-care-unit-an-8-year-experience-of-a-referral-hospital
#17
Aslihan Kara, Metin Kaya Gurgoze, Mustafa Aydin, Erdal Taskin, Unal Bakal, Aysen Orman
BACKGROUND: The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years. METHODS: This retrospective analysis included a total of 52 newborn infants who underwent APD in a neonatal intensive care unit between January 2008 and March 2016. Demographic, clinical, laboratory and microbiological data were extracted from patients' medical files...
November 16, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29215423/galt-deficiency-galactosemia
#18
Sharon Anderson
Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. A brief overview of galactosemia and newborn screening is presented, followed by detailed information about each of the conditions. Confirmatory testing, acute and long-term management, and outcome for these galactosemia types are discussed as well as the importance of genetic counseling and testing for the infant and family to refine reproductive risk...
January 2018: MCN. the American Journal of Maternal Child Nursing
https://www.readbyqxmd.com/read/29213153/reference-values-of-amino-acids-acylcarnitines-and-succinylacetone-by-tandem-mass-spectrometry-for-use-in-newborn-screening-in-southwest-colombia
#19
Nora Céspedes, Angela Valencia, Carlos Alberto Echeverry, Maria Isabel Arce-Plata, Cristóbal Colón, Daisy E Castiñeiras, Paula Margarita Hurtado, Jose Angel Cocho, Sócrates Herrera, Myriam Arévalo-Herrera
Introduction: Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality of affected patients, and consequent untimely child death. In contrast to classical methods, tandem mass spectrometry (MS/MS) has allowed simultaneous evaluation of multiple metabolites associated with IEM offering higher sensitivity, low false positive rates and high throughput. Aims: Determine concentration levels for amino acids and acylcarnitines in blood of newborns from Colombia, to establish reference values for further use in diagnosis of IEM...
September 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/29211263/metabolic-screening-and-metabolomics-analysis-in-the-intellectual-developmental-disorders-mexico-study
#20
Isabel Ibarra-González, Rocío Rodríguez-Valentín, Eduardo Lazcano-Ponce, Marcela Vela-Amieva
OBJECTIVE: Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. MATERIALS AND METHODS: Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition, target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD...
July 2017: Salud Pública de México
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