keyword
https://read.qxmd.com/read/33241759/incidence-of-inborn-errors-of-metabolism-detected-by-tandem-mass-spectrometry-in-china-a-census-of-over-seven-million-newborns-between-2016-and-2017
#1
Kui Deng, Jun Zhu, Erling Yu, Liangcheng Xiang, Xuelian Yuan, Yongna Yao, Xiaohong Li, Hanmin Liu
BACKGROUND: The incidence of inborn errors of metabolism varies widely across countries. Very few studies have analyzed the incidence of these disorders in Mainland China. We aimed to estimate the overall and disease-specific incidences of inborn errors of metabolism in Chinese newborns and investigate the geographical distribution of these disorders. METHODS: A national cross-sectional survey was conducted to investigate newborn inborn errors of metabolism screening by tandem mass spectroscopy in Mainland China between 2016 and 2017...
November 26, 2020: Journal of Medical Screening
https://read.qxmd.com/read/33239577/performance-of-expanded-newborn-screening-in-norway-supported-by-post-analytical-bioinformatics-tools-and-rapid-second-tier-dna-analyses
#2
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T Bliksrud, Carlos Sagredo, Øyvind E Olsen, Mona C Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M Løvoll, Mette R Kløvstad Olavsen, Dionne Navarrete, Hege J Gaup, Rina Lilje, Rolf H Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D Rowe, Rolf D Pettersen
In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive (TP) (1:6151) and 107 (1:4311) false-positive IEM cases. Twenty-one percent of the TP cases were symptomatic at the time of the NBS results, but in two-thirds, the screening result directed the exact diagnosis...
June 27, 2020: International Journal of Neonatal Screening
https://read.qxmd.com/read/33238140/immunological-deficiencies-more-frequent-than-they-seem-to-be
#3
REVIEW
Irma Cecília Douglas Paes Barreto, Bruno Acatauassú Paes Barreto, Erica Gomes do Nascimento Cavalcante, Antonio Condino Neto
OBJECTIVE: A review article was carried out, addressing the clinical and epidemiological characteristics of immune system deficiencies, which are associated with or predispose to recurrent infectious processes, autoimmune diseases, auto inflammatory diseases, or neoplasms, and which are classified as inborn errors of immunity (IEI) and secondary immunodeficiencies (SID). Emphasis was placed on the classification of the main signs and symptoms for each organ and system, which will serve as warning signs, to guide the pediatrician in the investigation of the main IEI...
November 22, 2020: Jornal de Pediatria
https://read.qxmd.com/read/33236367/view-from-inside-rare-diseases-in-the-times-of-covid19
#4
EDITORIAL
Jerry Vockley
No abstract text is available yet for this article.
November 24, 2020: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/33233828/the-cost-effectiveness-of-expanding-the-uk-newborn-bloodspot-screening-programme-to-include-five-additional-inborn-errors-of-metabolism
#5
Alice Bessey, James Chilcott, Abdullah Pandor, Suzy Paisley
Glutaric aciduria type 1, homocystinuria, isovaleric acidaemia, long-chain hydroxyacyl CoA dehydrogenase deficiency and maple syrup urine disease are all inborn errors of metabolism that can be detected through newborn bloodspot screening. This evaluation was undertaken in 2013 to provide evidence to the UK National Screening Committee for the cost-effectiveness of including these five conditions in the UK Newborn Bloodspot Screening Programme. A decision-tree model with lifetable estimates of outcomes was built with the model structure and parameterisation informed by a systematic review and expert clinical judgment...
November 20, 2020: International Journal of Neonatal Screening
https://read.qxmd.com/read/33228944/pulmonary-manifestations-of-endocrine-and-metabolic-diseases-in-children
#6
REVIEW
Alexander A Broomfield, Raja Padidela, Stuart Wilkinson
Advances in technology, methodology, and deep phenotyping are increasingly driving the understanding of the pathologic basis of disease. Improvements in patient identification and treatment are impacting survival. This is true in endocrinology and inborn errors of metabolism, where disease-modifying therapies are developing. Inherent to this evolution is the increasing awareness of the respiratory manifestations of these rare diseases. This review updates clinicians, stratifying diseases spirometerically; pulmonary hypertension and diseases with a predisposition to recurrent pulmonary infection are discussed...
February 2021: Pediatric Clinics of North America
https://read.qxmd.com/read/33224636/the-future-of-gene-targeted-therapy-for-hereditary-tyrosinemia-type-1-as-a-lead-indication-among-the-inborn-errors-of-metabolism
#7
Whitney S Thompson, Gourish Mondal, Caitlin J Vanlith, Robert A Kaiser, Joseph B Lillegard
Introduction: Inborn errors of metabolism (IEMs) often result from single-gene mutations and collectively cause liver dysfunction in neonates leading to chronic liver and systemic disease. Current treatments for many IEMs are limited to maintenance therapies that may still require orthotropic liver transplantation. Gene therapies offer a potentially superior approach by correcting or replacing defective genes with functional isoforms; however, they face unique challenges from complexities presented by individual diseases and their diverse etiology, presentation, and pathophysiology...
2020: Expert Opinion on Orphan Drugs
https://read.qxmd.com/read/33222540/the-management-of-phenylketonuria-in-adult-patients-in-italy-a-survey-of-six-specialist-metabolic-centers
#8
Alberto Burlina, Vincenzo Leuzzi, Marco Spada, Maria Teresa Carbone, Sabrina Paci, Albina Tummolo
Introduction: Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH). Its prevalence is estimated to be 1:10,000 in Europe. PKU is the commonest congenital inborn error of metabolism. The aim of our study was to investigate the characteristics of clinical practice in relation to PKU in Italy, in order to raise awareness about the current management and therapeutic approaches adopted. Methods: Six Italian experts conducted a systematic literature review as well as an internal survey to investigate the relevant clinical aspects...
November 23, 2020: Current Medical Research and Opinion
https://read.qxmd.com/read/33221376/manipulation-of-a-cation-%C3%AF-sandwich-reveals-conformational-flexibility-in-phenylalanine-hydroxylase
#9
Emilia C Arturo, George W Merkel, Michael R Hansen, Sophia Lisowski, Deeanne Almeida, Kushol Gupta, Eileen K Jaffe
Phenylalanine hydroxylase (PAH) is an allosteric enzyme that maintains phenylalanine (Phe) below neurotoxic levels; its failure results in phenylketonuria, an inborn error of amino acid metabolism. Wild type (WT) PAH equilibrates among resting-state (RS-PAH) and activated (A-PAH) conformations, whose equilibrium position depends upon allosteric Phe binding. The RS-PAH conformation of WT rat PAH (rPAH) contains a cation-π sandwich involving Phe80, that cannot exist in the A-PAH conformation. Phe80 variants F80A, F80D, F80L, and F80R were prepared and evaluated using native PAGE, size exclusion chromatography, ion exchange behavior, intrinsic protein fluorescence, enzyme kinetics, and limited proteolysis, each as a function of [Phe]...
November 19, 2020: Biochimie
https://read.qxmd.com/read/33205569/fatal-metabolic-stroke-in-a-child-with-propionic-acidaemia-11-years-post-liver-transplantation
#10
S Sivananthan, N Hadzic, A Dhawan, N D Heaton, R Vara
Propionic acidaemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of propionyl CoA carboxylase which often manifests with frequent metabolic decompensations and risk of neurological injury. Outcomes with medical therapy remain sub-optimal. Liver transplantation has been shown to be a therapeutic option for patients and results in a milder phenotype of the disease and partial correction of the enzyme defect. Liver transplantation has been increasingly reported over the last decade and experience in managing these patients is improving...
November 18, 2020: American Journal of Transplantation
https://read.qxmd.com/read/33204601/cerebrotendinous-xanthomatosis-associated-diarrhea-and-response-to-chenodeoxycholic-acid-treatment
#11
Eric P Brass, Bianca M L Stelten, Aad Verrips
Background: In patients with cerebrotendinous xanthomatosis (CTX), chronic diarrhea is one of the earliest and main symptoms of the disease. In the current study, we evaluated the characteristics of the diarrhea and its response to chenodeoxycholic acid (CDCA) therapy in a cohort of Dutch CTX patients. Methods: We performed a retrospective review of medical records for 33 genetically confirmed CTX patients, and abstracted the characteristics of the diarrhea and the response to CDCA therapy (15 mg/kg/day up to 750 mg/day)...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204600/neonatal-carnitine-concentrations-in-relation-to-gestational-age-and-weight
#12
Loek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, Mirjam Langeveld, Rose Maase, Frédéric M Vaz, Gepke Visser, Ronald J A Wanders, Frits A Wijburg, Rendelien K Verschoof-Puite, Peter C J I Schielen
Background: Free carnitine has been measured in the Dutch newborn screening (NBS) program since 2007 with a referral threshold of ≤5 μmol/L, regardless of gestational age or birthweight. However, several studies suggest that carnitine concentrations may depend on gestational age and birthweight. We evaluated differences in postnatal day-to-day carnitine concentrations in newborns based on gestational age (GA) and/or weight for GA (WfGA). Methods: A retrospective study was performed using data from the Dutch NBS...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204599/fabry-disease-in-india-a-multicenter-study-of-the-clinical-and-mutation-spectrum-in-54-patients
#13
Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia-Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients with FD. In this multicentric study involving 10 tertiary referral centers in India, we analyzed the clinical course and genotype of 54 patients from 37 families. Family screening identified 19 new patients (35%) from 12 index cases. Then, 33 GLA gene variants were identified in 49/54 (90...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204598/utility-of-specific-amino-acid-ratios-in-screening-for-pyruvate-dehydrogenase-complex-deficiencies-and-other-mitochondrial-disorders-associated-with-congenital-lactic-acidosis-and-newborn-screening-prospects
#14
Jirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori-Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr
Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result in high morbidity and mortality. With ~140,000 live births annually in Ohio and ~1 in 9,000 overall prevalence of MtDs, we estimate 2 to 3 newborns will have PDCD and 13 to 14 others likely will have another MtD annually. We compared the sensitivities of plasma amino acids (AA) Alanine (Ala), Alanine:Leucine (Ala:Leu), Alanine:Lysine and the combination of Ala:Leu and Proline:Leucine (Pro:Leu), in subjects with known primary-specific PDCD due to PDHA1 and PDHB mutations vs controls...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204597/cellular-and-molecular-outcomes-of-glutamine-supplementation-in-the-brain-of-succinic-semialdehyde-dehydrogenase-deficient-mice
#15
Madalyn N Brown, K Michael Gibson, Michelle A Schmidt, Dana C Walters, Erland Arning, Teodoro Bottiglieri, Jean-Baptiste Roullet
Succinic semialdehyde dehydrogenase deficiency (SSADHD) manifests with low levels of glutamine in the brain, suggesting that central glutamine deficiency contributes to pathogenesis. Recently, we attempted to rescue the disease phenotype of aldh5a1 -/- mice, a murine model of SSADHD with dietary glutamine supplementation. No clinical rescue and no central glutamine improvement were observed. Here, we report the results of follow-up studies of the cellular and molecular basis of the resistance of the brain to glutamine supplementation...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204596/defective-platelet-function-in-niemann-pick-disease-type-c1
#16
Oscar C W Chen, Alexandria Colaco, Lianne C Davis, Fedir N Kiskin, Nicole Y Farhat, Anneliese O Speak, David A Smith, Lauren Morris, Emily Eden, Patricia Tynan, Grant C Churchill, Antony Galione, Forbes D Porter, Frances M Platt
Niemann-Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in either NPC1 (95% of cases) or NPC2 . Reduced late endosome/lysosome calcium (Ca2+ ) levels and the accumulation of unesterified cholesterol and sphingolipids within the late endocytic system characterize this disease. We previously reported impaired lysosome-related organelle (LRO) function in Npc1 -/- Natural Killer cells; however, the potential contribution of impaired acid compartment Ca2+ flux and LRO function in other cell types has not been determined...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204595/fatal-covid-19-infection-in-a-patient-with-long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency-a-case-report
#17
Parith Wongkittichote, James R Watson, Jennifer M Leonard, Elizabeth R Toolan, Patricia I Dickson, Dorothy K Grange
Long-chain fatty-acyl CoA dehydrogenase deficiency (LCHADD) is an inborn error of long chain fatty acid oxidation with various features including hypoketotic hypoglycemia, recurrent rhabdomyolysis, pigmentary retinopathy, peripheral neuropathy, cardiomyopathy, and arrhythmias. Various stresses trigger metabolic decompensation. Coronavirus disease 2019 (COVID-19) is a pandemic caused by the RNA virus SARS-CoV-2 with diverse presentations ranging from respiratory symptoms to myocarditis. We report a case of a patient with LCHADD who initially presented with typical metabolic decompensation symptoms including nausea, vomiting, and rhabdomyolysis in addition to mild cough, and was found to have COVID-19...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204594/dig-deeper-when-it-does-not-make-sense-juvenile-xanthomas-due-to-sitosterolemia
#18
Sharmila Kiss, Joy Yaplito Lee, James Pitt, Duncan MacGregor, Jane Wallace, Melanie Marty, Natasha J Brown
Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either ABCG5 or ABCG8 , which encode for a sterol efflux transporter (sterolin) that pumps sterols out into the intestinal lumen or into bile. This leads to progressive accumulation of plant sterols in blood and tissues. Clinical presentation is variable and may include xanthoma, arthritis, thyroid dysfunction, premature atherosclerotic disease, splenomegaly, and hematologic manifestations. We report a child presented with multiple xanthomas at age 5...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204593/vascular-ring-anomaly-in-a-patient-with-phosphomannomutase-2-deficiency-a-case-report-and-review-of-the-literature
#19
Zhen Qian, Jef Van den Eynde, Stephane Heymans, Luc Mertens, Eva Morava
Background: Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies. The most common CDG is caused by pathogenic variants in the phosphomannomutase 2 gene ( PMM2 ), which impairs one of the first steps of N-glycosylation and affects multiple organ systems. Cardiac involvement can include pericardial effusion, cardiomyopathy, and arrhythmia, while an association with cardiovascular congenital anomalies is not well studied...
November 2020: JIMD Reports
https://read.qxmd.com/read/33204592/mpi-cdg-from-a-hepatic-perspective-report-of-two-egyptian-cases-and-review-of-literature
#20
Tawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H Freeze
MPI-CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato-gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI-CDG. Oral mannose therapy was markedly effective in one patient but was only partially effective in the other who showed progressive portal hypertension...
November 2020: JIMD Reports
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