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Inborn error of metabolism

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https://www.readbyqxmd.com/read/29642737/sudden-unexpected-death-in-neonates-a-clinico-pathological-study
#1
Jeanette A Reyes, Gino R Somers, David A Chiasson
Clinico-pathological studies that focus on sudden unexpected death (SUD) in the neonatal period are rare. The objective of this study was to elucidate the frequency and pathological spectrum of anatomical causes of death (CODs), found in the setting of sudden unexpected death in neonates (SUD-N), and to correlate the COD with premortem circumstantial information. We conducted a detailed review of all autopsy reports on SUD-N cases at our institution from 1997 to 2015. Analyzed clinical data included obstetrical history, postpartum/neonatal medical course, and circumstances surrounding death...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29629736/degenerative-osteoarthritis-with-multiple-joint-arthroplasties-due-to-alkaptonuria-a-rare-inborn-error-of-tyrosine-metabolism
#2
Raja Hakim, Nimrod Rozen, Andrea Zatkova, Judit Krausz, Irit Elmalah, Ronen Spiegel
No abstract text is available yet for this article.
April 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29626102/identification-of-unusual-oxysterols-and-bile-acids-with-7-oxo-or-3%C3%AE-5%C3%AE-6%C3%AE-trihydroxy-functions-in-human-plasma-by-charge-tagging-mass-spectrometry-with-multistage-fragmentation
#3
William J Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J Crick, Thomas Hearn, Alison Dickson, Brian W Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A Jones, Yuqin Wang
7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC) and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples, however, in disease their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders e.g. Niemann Pick disease type C, or the inborn errors of sterol metabolism e.g. Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis. A complication in the analysis of 7-OC and 5,6-EC is that they can also be formed ex vivo from cholesterol during sample handling in air causing confusion with molecules formed in vivo...
April 6, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29623884/tryptophan-metabolism-utility-of-plasmatic-assay-in-phenylketonuria-a-study-in-6-adult-patients
#4
Lysiane Boulet, Gérard Besson, Patrice Faure, Véronique Ducros, Christelle Corne
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). If untreated, the disease leads to an important intellectual disability (IQ <50). Although many facts are common between phenylalanine (Phe) and tryptophan (Trp) metabolism, little is known about Trp metabolism modification in PKU. Our aim was to evaluate the modifications of Trp metabolism in a phenylketonuric population. A monocentric study was conducted between October 2016 and March 2017...
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29623569/advances-in-computer-assisted-syndrome-recognition-by-the-example-of-inborn-errors-of-metabolism
#5
Jean T Pantel, Max Zhao, Martin A Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter M Krawitz
Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the performance of deep-learned classification processes is inherently difficult. For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysaccharidosis type I and II that are known for their wide and overlapping phenotypic spectra...
April 5, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29622328/inborn-errors-of-metabolism-in-the-emergency-department-undiagnosed-and-management-of-the-known
#6
REVIEW
Emily C MacNeill, Chantel P Walker
An inborn error of metabolism should be considered in any neonate who presents to the emergency department in extremis and in any young child who presents with altered mental status and vomiting. In children with unknown diagnoses, it is crucial to draw the appropriate laboratory studies before the institution of therapy, although treatment needs rapid institution to mitigate neurologic damage and avoid worsening metabolic crisis. Although there are hundreds of individual genetic disorders, they are roughly placed into groups that present similarly...
May 2018: Emergency Medicine Clinics of North America
https://www.readbyqxmd.com/read/29620587/mucolipidosis-type-ii-affecting-1-fetus-and-placental-disk-of-a-dichorionic-diamnionic-twin-gestation-a-case-report-and-review-of-the-literature
#7
David B Chapel, Bonnie Choy, Peter Pytel, Aliya N Husain, Ricardo R Lastra
Mucolipidosis type II, also known as I-cell disease, is an autosomal recessive inborn error of metabolism, resulting from loss-of-function mutations in GNPTAB. Affected infants exhibit multiple physical anomalies and developmental delay, and death from disease follows in early childhood. Here we present an instructive case of mucolipidosis type II affecting 1 fetus and placental disk in a dichorionic-diamnionic twin pregnancy delivered at 36-wk gestation. The second twin and placental disk showed no abnormality...
April 3, 2018: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29617502/the-frequency-of-infective-endocarditis-in-candida-bloodstream-infections-a-retrospective-study-in-a-child-hospital
#8
Ahu Kara, İlker Devrim, Timur Meşe, Nuri Bayram, Murat Yılmazer, Gamze Gülfidan
INTRODUCTION: Fungal endocarditis is reported less frequently than bacterial endocarditis, with an incidence of 0-12% of the total pediatric infective endocarditis. OBJECTIVE: In this study, the incidence of infective endocarditis in Candida bloodstream infections in a tertiary hospital during the periods of 2007 and 2016 was reviewed. METHODS: Patients with positive blood or catheter cultures in terms of Candida spp. during the study period of January 2007 and January 2016 were analyzed in terms of Candida infective endocarditis...
January 2018: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/29610166/b-6-and-bleeding-a-case-report-of-a-novel-vitamin-toxicity
#9
Alexandra J Borst, Dmitry Tchapyjnikov
Pyridox(am)ine-5-phosphate oxidase deficiency is an inborn error of vitamin B6 metabolism that is characterized by neonatal seizures, requiring lifelong therapy with pyridoxal-5-phosphate. We present the first case of a patient with pyridox(am)ine-5-phosphate oxidase deficiency and mild hemophilia A, whose bleeding symptoms were exacerbated by the vitamin B6 therapy essential for his epileptic disorder. This report expands the spectrum of known vitamin B6 toxicity and demonstrates a need for vigilance in monitoring for bleeding symptoms in patients requiring pyridoxine or pyridoxal-5-phosphate supplementation...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29597274/human-mitochondrial-hmg-coa-synthase-deficiency-role-of-enzyme-dimerization-surface-and-characterization-of-three-new-patients
#10
Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, Pilar Tobajas Morlana, Alina Levtova, Bernd C Schwahn, Corinne DeLaet, Baiba Lace, Paulino Gómez-Puertas, Juan Pié
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mitochondrial HMG-CoA synthase deficiency or mHS deficiency, OMIM #605911) is an inborn error of metabolism that affects ketone body synthesis. Acute episodes include vomiting, lethargy, hepatomegaly, hypoglycemia and dicarboxylic aciduria. The diagnosis is difficult due to the relatively unspecific clinical and biochemical presentation, and fewer than 30 patients have been described. This work describes three new patients with mHS deficiency and two missense mutations c...
March 28, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29596327/disruption-of-ptps-gene-causing-pale-body-color-and-lethal-phenotype-in-the-silkworm-bombyx-mori
#11
Xiaoling Tong, Pingfeng Liang, Songyuan Wu, Yuanhao Li, Liang Qiao, Hai Hu, Zhonghuai Xiang, Cheng Lu, Fangyin Dai
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase ( PAH ) gene or by defects in the tetrahydrobiopterin (BH4) synthesis pathway. Here, by positional cloning, we report that the 6-pyruvoyl-tetrahydropterin synthase ( PTPS ) gene, encoding a key enzyme of BH4 biosynthesis, is responsible for the alc (albino C) mutation that displays pale body color, head shaking, and eventually lethality after the first molting in silkworm. Compared to wild type, the alc mutant produced more substrates (phenylalanine (Phe) and tyrosine (Tyr)) and generated less DOPA and dopamine...
March 29, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29594647/pregnancy-management-and-outcome-in-patients-with-four-different-tetrahydrobiopterin-disorders
#12
O Kuseyri, A Weissbach, N Bruggemann, C Klein, M Giżewska, D Karall, S Scholl-Bürgi, H Romanowska, E Krzywińska-Zdeb, A A Monavari, I Knerr, Z Yapıcı, V Leuzzi, T Opladen
INTRODUCTION: Inborn errors of tetrahydrobiopterin (BH4 ) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing awareness and improved availability of drug treatment the number of patients with BH4 disorders reaching adulthood is constantly increasing. Pregnancy care of patients with these disorders is therefore a new challenge for clinicians. METHODS: This retrospective study summarises for the first time clinical and biochemical monitoring data of 16 pregnancies in seven women with different disorders of BH4 metabolism and evaluates treatment regimens before and during pregnancy in relation to the obstetrical outcome and paediatric follow-up...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29584887/national-survey-of-myeloablative-total-body-irradiation-prior-to-hematopoietic-stem-cell-transplantation-in-japan-survey-of-the-japanese-radiation-oncology-study-group-jrosg
#13
Naoya Ishibashi, Toshinori Soejima, Hiroki Kawaguchi, Takeshi Akiba, Masatoshi Hasegawa, Kouichi Isobe, Hitoshi Ito, Michiko Imai, Yasuo Ejima, Masaharu Hata, Keisuke Sasai, Emiko Shimoda, Toshiya Maebayashi, Masahiko Oguchi, Tetsuo Akimoto
A myeloablative regimen that includes total-body irradiation (TBI) before hematopoietic stem cell transplantation results in higher patient survival rates than achieved with regimens without TBI. The TBI protocol, however, varies between institutions. In October 2015, the Japanese Radiation Oncology Study Group initiated a national survey of myeloablative TBI (covering 2010-2014). Among the 186 Japanese institutions performing TBI, 90 (48%) responded. The 82 institutions that had performed myeloablative TBI during this period treated 2698 patients with malignant disease [leukemia (2082 patients, 77...
March 23, 2018: Journal of Radiation Research
https://www.readbyqxmd.com/read/29577258/gamma-aminobutyric-acid-levels-in-cerebrospinal-fluid-in-neuropaediatric-disorders
#14
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Daniel Cuadras, Mercedes Casado, Judith Armstrong-Morón, Dèlia Yubero, Julio Montoya, Rafael Artuch, Àngels García-Cazorla
AIM: Gamma-aminobutyric acid (GABA) is a major modulator in brain maturation and its role in many different neurodevelopmental disorders has been widely reported. Although the involvement of GABA in different disorders has been related to its regulatory function as an inhibitory neurotransmitter in the mature brain, co-transmitter, and signalling molecule, little is known about its role as a clinical biomarker in neuropaediatric disorders. The aim of this study is to report the cerebrospinal fluid (CSF) free-GABA concentrations in a large cohort of patients (n=85) with different neurological disorders...
March 25, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29575569/clinical-biochemical-and-genetic-features-of-four-patients-with-short-chain-enoyl-coa-hydratase-echs1-deficiency
#15
Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, Joanne Hughes, Ellen Crushell, Michael T Geraghty, Martine Tetreault, Peter O'Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R Waterham, Sacha Ferdinandusse, Ronald J A Wanders, Robert W Taylor, James J Pitt, Philip D Mayne
Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary to dysfunction of valine metabolism. We describe four patients from two consanguineous families (one Pakistani and one Irish Traveler), who presented in infancy with LS...
March 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29563068/pediatric-endocrine-and-metabolic-diseases-and-proteomics
#16
Ioanna Kosteria, Christina Kanaka-Gantenbein, Athanasios K Anagnostopoulos, George P Chrousos, George Th Tsangaris
The principles of Predictive, Preventive and Personalized Medicine (PPPM) dictate the need to recognize individual susceptibility to disease in a timely fashion and to offer targeted preventive interventions and treatments. Proteomics is a state-of-the art technology- driven science aiming at expanding our understanding of the pathophysiologic mechanisms that underlie disease, but also at identifying accurate predictive, diagnostic and therapeutic biomarkers, that will eventually promote the implementation of PPPM...
March 18, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29556840/contribution-of-tandem-mass-spectrometry-to-the-diagnosis-of-lysosomal-storage-disorders
#17
Monique Piraud, Magali Pettazzoni, Pamela Lavoie, Séverine Ruet, Cécile Pagan, David Cheillan, Philippe Latour, Christine Vianey-Saban, Christiane Auray-Blais, Roseline Froissart
Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS/MS has changed the diagnostic rationale in recent years. This fine technology brings more sensitive, specific, and reliable methods than the previous biochemical ones for the analysis of urinary glycosaminoglycans, oligosaccharides, and sialic acid...
March 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29556837/unraveling-the-unknown-areas-of-the-human-metabolome-the-role-of-infrared-ion-spectroscopy
#18
Jonathan Martens, Giel Berden, Herman Bentlage, Karlien L M Coene, Udo F Engelke, David Wishart, Monique van Scherpenzeel, Leo A J Kluijtmans, Ron A Wevers, Jos Oomens
The identification of molecular biomarkers is critical for diagnosing and treating patients and for establishing a fundamental understanding of the pathophysiology and underlying biochemistry of inborn errors of metabolism. Currently, liquid chromatography/high-resolution mass spectrometry and nuclear magnetic resonance spectroscopy are the principle methods used for biomarker research and for structural elucidation of small molecules in patient body fluids. While both are powerful techniques, several limitations exist that often make the identification of unknown compounds challenging...
March 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29543224/laboratory-analysis-of-organic-acids-2018-update-a-technical-standard-of-the-american-college-of-medical-genetics-and-genomics-acmg
#19
Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman, Qin Sun
Disclaimer: These ACMG Standards are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests, or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29542068/high-risk-stratified-neonatal-screening
#20
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
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