keyword
MENU ▼
Read by QxMD icon Read
search

inborn errors

keyword
https://www.readbyqxmd.com/read/28540711/pcr-in-the-analysis-of-clinical-samples-prenatal-and-postnatal-diagnosis-of-inborn-errors-of-metabolism
#1
Laura Vilarinho, Célia Nogueira
Inborn errors of metabolism (IEMs) are individually rare but collectively common. As more and more genes are cloned and specific disease-causing mutations are identified, the diagnosis of IEMs is becoming increasingly confirmed by mutation analysis. Diagnosis is important not only for treatment and prognosis but also for genetic counselling and prenatal diagnosis in subsequent pregnancies. A wide range of molecular methods is available for the identification of mutations and other DNA variants, most of which are based on the Polymerase Chain Reaction (PCR)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28540274/identification-of-a-novel-mutation-in-the-pah-gene-in-an-iranian-phenylketonuria-family-a-case-report
#2
Masoumeh Razipour, Daniz Kooshavar, Elaheh Alavinejad, Seyede Zahra Sajedi, Neda Mohajer, Aria Setoodeh, Saeed Talebi, Mohammad Keramatipour
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015...
April 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28535532/inborn-errors-of-metabolism-the-achilles-heel-of-the-respiratory-system
#3
Dominique Valeyre, Nadia Nathan, Jean-François Bernaudin
No abstract text is available yet for this article.
May 24, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28535199/genotype-phenotype-correlation-in-patients-with-isovaleric-acidemia-comparative-structural-modelling-and-computational-analysis-of-novel-variants
#4
Osama K Zaki, George Priya Doss C, Salsabil A Ali, Ghadeer G Murad, Shaima A Elashi, Maryam Sa Ebnou, D Thirumal Kumar, Ola Khalifa, Radwa Gamal, Heba S A El Abd, Bilal N Nasr, Hatem Zayed
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients diagnoses were confirmed by urinary organic acid analysis and the blood C5-Carnitine value. A molecular genetic analysis of the IVD gene revealed nine different variants: five were missense variants (c.1193G>A; p. R398Q, c.1207T>A; p. Y403N, c.872C>T; p...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28530318/-severe-infantile-hypophosphatasia
#5
Evgenia Gurevich, Daniel Landau
Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity, due to loss-of-function mutations within the gene for tissuenonspecific isoenzyme of alkaline phosphatase [TNSALP]. The manifestations of hypophosphatasia range from neonatal death with almost no skeletal mineralization to dental problems in adults without any bone symptoms. There are no case reports of infantile hypophosphatasia in Israel. The existence of enzymatic replacement treatment for this disease makes it important to diagnose this problem as soon as possible...
January 2017: Harefuah
https://www.readbyqxmd.com/read/28526534/3-methylglutaconic-aciduria-a-frequent-but-underrecognized-finding-in-carbamoyl-phosphate-synthetase-i-deficiency
#6
Dariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, Meow-Keong Thong, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Maciej Pronicki, Roman Sikora, Rijad Haidar, Mariusz Ołtarzewski, Ewa Jabłońska, Premala Muthukumarasamy, Pavai Sthaneswar, Chin-Seng Gan, Małgorzata Krajewska-Walasek, Rosalba Carrozzo, Daniela Verrigni, Michela Semeraro, Cristiano Rizzo, Roberta Taurisano, Bader Alhaddad, Reka Kovacs-Nagy, Tobias B Haack, Carlo Dionisi-Vici, Ewa Pronicka, Saskia B Wortmann
The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres...
May 16, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28526280/an-overview-of-medical-risk-factors-for-childhood-psychosis-implications-for-research-and-treatment
#7
REVIEW
Marianna Giannitelli, Angèle Consoli, Marie Raffin, Renaud Jardri, Douglas F Levinson, David Cohen, Claudine Laurent-Levinson
OBJECTIVE: Psychotic disorders in childhood and early adolescence often progress to chronic schizophrenia, but in many cases there are diagnosable medical and genetic causes or risk factors. We reviewed our clinical experience and the relevant literature to identify these factors and to define their clinical features, appropriate work-up and treatment. METHOD: We reviewed the results of comprehensive medical evaluations of 160 psychotic children and adolescents in our center...
May 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28524220/-metabolic-approach-in-epileptic-encephalopathies-in-infants
#8
L Lopez-Marin
INTRODUCTION: Although the overall incidence of inborn errors of metabolism is low, their early diagnosis is essential, since some of them have a specific treatment. DEVELOPMENT: We review the main treatable inborn errors of metabolism that can present as early-onset epileptic encephalopathies, together with their biochemical markers and their treatment. CONCLUSIONS: It is important to think about the possibility of an inborn error of metabolism with a specific therapy, since it is crucial for this to be started as soon as possible in order to prevent permanent neurological damage...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28515550/communication-impairments-in-children-with-inborn-errors-of-metabolism-a-preliminary-study
#9
Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
PURPOSE: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs. METHODS: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014)...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28512724/congenital-pulmonary-alveolar-proteinosis-from-birth-to-ten-years-of-age
#10
Sandra Alavuk Kundović, Ljiljana Popović
Pulmonary alveolar proteinosis is a rare lung disease in which lipoproteinaceous material accumulates within the alveoli, interfering with gas exchange. The disease is classified into congenital, secondary, and acquired. The congenital form includes inborn errors of surfactant metabolism, lysinuric protein intolerance and mutations in the components of granulocyte-macrophage colony-stimulating factor receptor. The main symptoms are non-specific. The radiologic appearance of pulmonary alveolar proteinosis is bilateral, symmetric and perihilar airspace consolidation...
May 17, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28508995/l-carnitine-and-acetyl-l-carnitine-roles-and-neuroprotection-in-developing-brain
#11
Gustavo C Ferreira, Mary C McKenna
L-Carnitine functions to transport long chain fatty acyl-CoAs into the mitochondria for degradation by β-oxidation. Treatment with L-carnitine can ameliorate metabolic imbalances in many inborn errors of metabolism. In recent years there has been considerable interest in the therapeutic potential of L-carnitine and its acetylated derivative acetyl-L-carnitine (ALCAR) for neuroprotection in a number of disorders including hypoxia-ischemia, traumatic brain injury, Alzheimer's disease and in conditions leading to central or peripheral nervous system injury...
May 16, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28505614/pulmonary-involvement-in-adult-patients-with-inborn-errors-of-metabolism
#12
Christel Tran, Frederic Barbey, Romain Lazor, Luisa Bonafé
Inborn errors of metabolism (IEM) are rare individually, but taken together, they affect 1 in 1,000 people. Most of the disease becomes apparent at the pediatric age; however, with the identification of late-onset forms, and with improved survival, several of these conditions may be found in adults of all ages. While the lung is not typically a primary site of clinical disease in patients with IEM, in some of them it can be a significantly affected organ with associated severe respiratory complications. Lung involvement can be a late- onset feature of a complex multisystemic disease, but sometimes it can also be the only manifestation of underlying IEM...
May 16, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28502825/treatment-of-severe-forms-of-lps-responsive-beige-like-anchor-protein-lrba-deficiency-by-allogeneic-hematopoietic-stem-cell-transplantation
#13
Markus G Seidel, Katrin Böhm, Figen Dogu, Austen Worth, Adrian Thrasher, Benoit Florkin, Aydan İkincioğulları, Anke Peters, Shahrzad Bakhtiar, Marie Meeths, Polina Stepensky, Isabelle Meyts, Svetlana O Sharapova, Laura Gámez-Díaz, Lennart Hammarström, Stephan Ehl, Bodo Grimbacher, Andrew R Gennery
LRBA deficiency, a life-threatening immunodeficiency/autoimmunity disorder, was treated by HSCT in 12 patients, four of whom died from transplant-related causes. Six patients were cured without further need of immunosuppression, and two are in partial remission.
May 10, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28489830/-clinical-and-laboratory-characteristics-of-patients-with-pulmonary-hypertension-and-pulmonary-vascular-complications-hospitalized-at-the-instituto-nacional-de-salud-del-ni%C3%A3-o
#14
Alexis Jose Ormeño Julca, Carlos Melchor Alvarez Murillo, Pedro Miguel Amoretti Alvino, Angel Aladino Florian Florian, Rosa Aurora Castro Johanson, Maria Danisa Celi Perez, Olga Rocío Huamán Prado
The hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PPHN) are distinct pulmonary vascular complications of portal hypertension (PHT) and are associated with increased morbidity and mortality. OBJECTIVES: To describe the clinical and laboratory characteristics of patients with pulmonary hypertension and pulmonary vascular complications hospitalized at the Instituto Nacional de Salud del Niño. MATERIALS AND METHODS: We included patients with HTP hospitalized from January 2012 to June 2013 and that during its evolution progressed with SHP or HTPP...
January 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28488385/the-c-797-g-a-p-r266k-cystathionine-%C3%AE-synthase-mutation-causes-homocystinuria-by-affecting-protein-stability
#15
Sapna Gupta, Liqun Wang, Warren D Kruger
Mutations in the cystathionine beta-synthase (CBS) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The c.797 G>A (p.R266K) mutation in CBS was originally described in several Norwegian pyridoxine responsive CBS deficient patients, and heterologous gene expression studies have shown that the protein has near wild-type levels of enzyme activity. Here, we characterize a transgenic mouse lacking endogenous Cbs and expressing p.R266K human CBS protein from a zinc inducible metallothionein promoter (Tg-R266K Cbs(-/-) )...
May 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28477283/linking-mitochondrial-dysfunction-to-neurodegeneration-in-lysosomal-storage-diseases
#16
REVIEW
Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Darius Ebrahimi-Fakhari
Lysosomal storage diseases (LSD) are inborn errors of metabolism resulting in multisystem disease. Central nervous system involvement, often with progressive neurodegeneration, accounts for a large portion of the morbidity and mortality seen in many LSD. Available treatments fail to prevent or correct neurologic symptoms and decline. Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. Mitochondrial dysfunction in LSD is characterized by alterations in mitochondrial mass, morphology and function...
May 5, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28471862/t-cell-responses-to-hsv-1-in-persons-who-have-survived-childhood-herpes-simplex-encephalitis
#17
Mariliis Ott, Lichen Jing, Lazaro Lorenzo, Jean-Laurent Casanova, Shen-Ying Zhang, David M Koelle
BACKGROUND: Herpes simplex encephalitis (HSE) after primary HSV-1 infection can occur in children due to inborn errors of cell-intrinsic immunity in the central nervous system (CNS). Paradoxically, symptomatic mucocutaneous HSV-1 recurrences are rare survivors of childhood HSE. T-cell acquired immunity is thought to be involved in control of recurrent mucocutaneous HSV infection. We thus tested HSV-1-specific immunity in HSE survivors. METHODS: We obtained serum and peripheral blood mononuclear cells (PBMC) a median of 13...
May 3, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28468868/diagnosing-childhood-onset-inborn-errors-of-metabolism-by-next-generation-sequencing
#18
Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, John K Bassett, Eleanor Cartwright, Sanjeev S Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew Am Morris, Elisabeth Jameson, Bernd C Schwahn, John H Walter, Sofia Douzgou, Helen Murphy, Chris Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A Monavari, Richard Martin, Anne Doolan, Senthil Senniappan, Simon C Ramsden, Simon A Jones, Siddharth Banka
BACKGROUND: Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches. METHODS: We designed and validated a next-generation sequencing (NGS) panel of 226 IEM genes, created six overlapping phenotype-based subpanels and tested 102 individuals, who presented clinically with suspected childhood-onset IEMs. RESULTS: In 51/102 individuals, NGS fully or partially established the molecular cause or identified other actionable diagnoses...
May 3, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28462797/d-glyceric-aciduria-does-not-cause-nonketotic-hyperglycinemia-a-historic-co-occurrence
#19
Michael A Swanson, Stephanie M Garcia, Elaine Spector, Kathryn Kronquist, Geralyn Creadon-Swindell, Melanie Walter, Ernst Christensen, Johan L K Van Hove, Jörn Oliver Sass
Historically, d-glyceric aciduria was thought to cause an uncharacterized blockage to the glycine cleavage enzyme system (GCS) causing nonketotic hyperglycinemia (NKH) as a secondary phenomenon. This inference was reached based on the clinical and biochemical results from the first d-glyceric aciduria patient reported in 1974. Along with elevated glyceric acid excretion, this patient exhibited severe neurological symptoms of myoclonic epilepsy and absent development, and had elevated glycine levels and decreased glycine cleavage system enzyme activity...
April 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28451876/an-exploration-of-genetic-test-utilization-genetic-counseling-and-consanguinity-within-the-inborn-errors-of-metabolism-collaborative-ibemc
#20
Quinn P Stein, Cate Walsh Vockley, Mathew J Edick, Shaohui Zhai, Sally J Hiner, Rebecca S Loman, Laura Davis-Keppen, Taylor A Zuck, Cynthia A Cameron, Susan A Berry
The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity...
April 27, 2017: Journal of Genetic Counseling
keyword
keyword
44377
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"