scholarly journals Development and application targeted NGS panels in the selective screening algorithm for inborn errors of metabolism. An experience of the St. Petersburg Medical and Genetic Center

2020 ◽  
pp. 66-68
Author(s):  
Ю.А. Чурюмова ◽  
Н.В. Вохмянина ◽  
С.В. Шляга ◽  
Т.В. Вавилова ◽  
Т.С. Симакова ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Clinical Symptoms ◽  
Genetic Diseases ◽  
Selective Screening ◽  
Inborn Errors ◽  
Leading Role ◽  
Childhood Morbidity ◽  
Screening Algorithm ◽  
Targeted Ngs ◽  
Biochemical Testing

Наследственные болезни обмена веществ представляют собой обширный класс генетических заболеваний и вносят значительный вклад в детскую заболеваемость, при этом их диагностика с использованием биохимических методов зачастую вызывает затруднения. В СПбГКУЗ МГЦ были разработаны и внедрены три панели для секвенирования 88 генов, ответственных за развитие трех групп наследственных болезней обмена (НБО), и протестировано 84 ребенка, у которых данные заболевания были заподозрены по данным тандемной масс-спектрометрии (ТМС), либо по наличию клинических симптомов. У 6 детей методом NGS полностью установлена генетическая причина заболевания. Патогенные мутации выявлялись значительно чаще при повышении биохимических маркеров, демонстрируя ведущую роль предварительного биохимического скрининга в проведении NGS анализа. NGS значительно повышает результативность клинической диагностики НБО. Биохимическое тестирование и NGS играют взаимодополняющие роли, и их комплексное использование в алгоритме селективного скрининга позволяет повысить точность диагностики НБО. Inborn errors of metabolism are an extensive class of genetic diseases and contribute significantly to childhood morbidity, and their diagnosis using biochemical methods is often difficult. Three panels for sequencing of 88 genes responsible for the development of three groups of inborn errors of metabolism (IEM) were developed and introduced in St.Petersburg Medical and Genetic Center and 84 children were tested for which these diseases were suspected by tandem mass-spectrometry or by the presence of clinical symptoms. In 6 children, the NGS method fully established the genetic cause of the disease. Pathogenic mutations were detected significantly more frequently with increased biochemical markers, demonstrating the leading role of pre-biochemical screening in performing NGS analysis. NGS significantly improves the clinical diagnostic effectiveness of IEM. Biochemical testing and NGS play complementary roles and their complex use in selective screening algorithm allows to increase accuracy of IEM diagnostics.

scholarly journals Selective screening in neonates suspected to have inborn errors of metabolism

2015 ◽  
Vol 16 (2) ◽  
pp. 165-171 ◽  
Author(s):  
Rabah M. Shawky ◽  
Heba Salah Abd-Elkhalek ◽  
Samah Elyamani Elakhdar
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Selective Screening ◽  
Inborn Errors

Disorders of Creatine Metabolism

2016 ◽  
Author(s):  
David Cheillan ◽  
Frédéric Sedel
Keyword(s):  
Language Impairment ◽  
Body Fluid ◽  
Inborn Errors Of Metabolism ◽  
Clinical Symptoms ◽  
Creatine Supplementation ◽  
Speech Delay ◽  
Inborn Errors ◽  
Creatine Transporter ◽  
Creatine Metabolism ◽  
Early Diagnostic

Creatine is a physiological guanidino compound playing a major role in energy metabolism in muscle and implicated in neurotransmission in brain. The three disorders of creatine metabolism (AGAT and GAMT deficiencies and the X-linked creatine transporter defect) are a group of inborn errors of metabolism characterized by a depletion of creatine that could be easily diagnosed by mesasurement of guanidinoacetate and creatine in body fluid or cranial MRS spectroscopy. The main clinical features of these paediatric disorders are intellectual disability and speech delay and some adult patients have been described with severe language impairment and mental retardation. Although the X-linked creatine transporter defect is currently not treatable, the clinical symptoms of the two disorders of creatine synthesis should be improved by creatine supplementation emphasizing the importance of an early diagnostic.

scholarly journals Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Diagnostics ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 779
Author(s):  
Yasmin Tatour ◽  
Tamar Ben-Yosef
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Phenotypic Variability ◽  
Genetic Diseases ◽  
Correct Diagnosis ◽  
Clinical Findings ◽  
Retinal Diseases ◽  
Inborn Errors ◽  
Diagnostic Aspects ◽  
The Central Nervous System ◽  
High Degree

Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous system, ophthalmic extra-retinal tissues, ear, skeleton, kidney and the cardiovascular system. Due to the high degree of phenotypic variability and phenotypic overlap found in syndromic IRDs, correct diagnosis based on phenotypic features alone may be challenging and sometimes misleading. Therefore, genetic testing has become the benchmark for the diagnosis and management of patients with these conditions, as it complements the clinical findings and facilitates an accurate clinical diagnosis and treatment.

scholarly journals Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

1997 ◽  
Vol 156 (8) ◽  
pp. 650-654 ◽  
Author(s):  
J. C. Coelho ◽  
M. Wajner ◽  
M. G. Burin ◽  
C. R. Vargas ◽  
R. Giugliani
Keyword(s):  
High Risk ◽  
Inborn Errors Of Metabolism ◽  
Selective Screening ◽  
Inborn Errors

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: A 5year report

2014 ◽  
Vol 47 (9) ◽  
pp. 823-828 ◽  
Author(s):  
Laila A. Selim ◽  
Sawsan Abdel-Hady Hassan ◽  
Fadia Salem ◽  
Azza Orabi ◽  
Fayza A. Hassan ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Inborn Errors Of Metabolism ◽  
Tandem Mass ◽  
Selective Screening ◽  
Inborn Errors ◽  
Egyptian Children

scholarly journals Course for the qualification of nurses in the care of children with genetic diseases: an experience report

2021 ◽  
Vol 42 (spe) ◽  
Author(s):  
Silvani Herber ◽  
Fernanda Araújo Rodrigues ◽  
Alessandra Vaccari
Keyword(s):  
Professional Development ◽  
Inborn Errors Of Metabolism ◽  
Screening Program ◽  
Genetic Diseases ◽  
Public University ◽  
Experience Report ◽  
Southern Brazil ◽  
Team Leaders ◽  
Inborn Errors ◽  
Face To Face

ABSTRACT Objective To describe the experience of developing and operating an extension course to qualify nurses in the care of children with genetic diseases. Method An experience report about the conduction of a university extension course with eight participants, developed at a public university in southern Brazil. It was a face-to-face course in November 2019. Results The course covered the following themes: introduction to Genetics in Nursing; rare diseases; inborn errors of metabolism; Neonatal Screening Program; and microcephaly. The content was developed through theoretical aspects, presentation of clinical cases, practical activities, and realistic simulation. Conclusion The extension course provided knowledge to nurses, who develop their functions as team leaders, enabling professional development and the promotion of information on the topic, which corroborates the objectives of the Nursing Now campaign.

scholarly journals METABOLIC EMERGENCIES – PART I

2015 ◽  
Vol 64 (1) ◽  
pp. 5-9
Author(s):  
Dana-Teodora Anton-Paduraru ◽  
Keyword(s):  
Metabolic Acidosis ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Clinical Symptoms ◽  
Inborn Errors ◽  
Recommended Treatment ◽  
Metabolic Conditions ◽  
Neonatal Hypocalcemia

Often, patients with metabolic conditions (diseases caused by electrolytic unbalances, endocrine dysfunctions, inborn errors of metabolism) have symptoms similar to other emergencies, particularly as newborns and infants. The authors present the main emergencies: electrolytic unbalances – hypoglycemia, hyponatremia, metabolic acidosis and neonatal hypocalcemia; endocrine dysfunctions – suprarenal insufficiency and neonatal hypopituitarism; inborn metabolic diseases – acidosis, hyperglycemia/ hypoglycemia, hyperammoniemia, clinical symptoms associated to them, and recommended treatment.

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