scholarly journals Diagnostic Advancement in Evaluating Inborn Errors of Metabolism: Past, Present and Future: A systematic review

2019 ◽  
Vol 3 (2) ◽  
pp. 58
Author(s):  
Nazmin Fatima ◽  
Shalini Tripathi ◽  
Roshan Alam ◽  
Mohammed Haris Siddiqui ◽  
Abbas Ali Mahdi ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
High Performance ◽  
Inborn Errors Of Metabolism ◽  
Genetic Disorders ◽  
Population Based ◽  
Gas Chromatography Mass Spectrometry ◽  
Molecular Testing ◽  
Inborn Errors ◽  
Biochemical Basis ◽  
Screening Programs

Metabolism is a delicately coordinated entity of chemical reactions. Inborn Errors of Metabolism (IEM) are rare congenital disorders that are mainly due to gene defect of enzymes or cofactors participating in a metabolic pathway or the transport of metabolites within a cell or between cells. The development of knowledge in basic sciences together with technology development in medical field has helped to better understand the molecular and biochemical basis of IEM. Environmental factors, ethnicity, race, consanguinity and genetic factors contribute to the increased prevalence of genetic disorders. The analytical methods have evolved over the years from thin layer chromatography (TLC), high performance liquid chromatography (HPLC) to tandem mass spectrometry (TMS) including gas chromatography mass spectrometry (GC/MS). Their applications for È¡7_Ø‹5_g of IEM has opened the door for screening of conditions that previously required molecular testing or another methodology that was not practical for population-based screening. Future technologies such as Matrix-assisted laser desorption/ ionization timeof- flight mass spectrometry (MALDI-TOF MS), has the potential for rapid and reliable identification of small metabolites and disease biomarkers in daily clinical laboratories, whereas DNA based screening by DNA microarrays or gene chips will allow much more improved diagnosis.These can be the boon to screening programs which will require excellent detection and follow-up servicesInternational Journal of Human and Health Sciences Vol. 03 No. 02 April’19. Page: 58-63

Stable isotopes in the management and diagnosis of inborn errors of metabolism

1990 ◽  
Vol 68 (7) ◽  
pp. 950-954 ◽  
Author(s):  
Howard G. Parsons
Keyword(s):  
Mass Spectrometry ◽  
Stable Isotopes ◽  
Inborn Errors Of Metabolism ◽  
Metabolite Identification ◽  
Urinary Metabolites ◽  
Gas Chromatography Mass Spectrometry ◽  
Inborn Errors ◽  
Internal Standards ◽  
Nutrient Turnover ◽  
Sensitivity Specificity

Stable isotope techniques offer advantages over older methods in safety, sensitivity, specificity, and reduction in number of subjects required for analytic determinations in some types of studies in "inborn errors of metabolism." In addition to their use as internal standards for gas chromatography – mass spectrometry, quantitation of plasma substrates, and their urinary metabolites, stable isotopes have been successfully employed in studies of metabolite identification, enzyme activity, nutrient turnover and requirements, and diagnosis of inborn errors of metabolism.Key words: metabolism, inborn errors, stable isotopes.

scholarly journals Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

2020 ◽  
Vol 21 (4) ◽  
pp. 1195 ◽  
Author(s):  
Dylan Mordaunt ◽  
David Cox ◽  
Maria Fuller
Keyword(s):  
Mass Spectrometry ◽  
Inborn Errors Of Metabolism ◽  
Early Recognition ◽  
Laboratory Diagnosis ◽  
Screening Tests ◽  
Diagnostic Efficiency ◽  
Inborn Errors ◽  
Screening Programs ◽  
Initiation Of Therapy ◽  
Delays In Diagnosis

Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.

The Scope of Mass Spectrometry in Clinical Chemistry

1975 ◽  
Vol 21 (7) ◽  
pp. 803-824 ◽  
Author(s):  
Alexander M Lawson
Keyword(s):  
Mass Spectrometry ◽  
Stable Isotope ◽  
Inborn Errors Of Metabolism ◽  
Clinical Chemistry ◽  
Blood Gases ◽  
Gas Chromatography Mass Spectrometry ◽  
Selected Ion Monitoring ◽  
Inborn Errors ◽  
Isotope Measurement ◽  
Ionization Methods

Abstract Several aspects of mass spectrometry and gas chromatography—mass spectrometry are reviewed, including ionization methods, repetitive scanning, selected ion monitoring, and stable isotope measurement. I discuss the application of these and other mass spectrometry methods to the investigation of compound classes relevant to clinical chemistry, to the assessment of inborn errors of metabolism, and to clinical studies. The latter include consideration of volatiles in body fluids, respiration and blood gases, stable-isotope applications, clinical toxicology, and drugs.

scholarly journals Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Sumreena Mansoor
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Intensive Care ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Genetic Disorders ◽  
Population Based ◽  
Preventive Strategy ◽  
Main Body ◽  
Inborn Errors ◽  
Mortality And Morbidity

Abstract Background Metabolic disorders are heterogeneous group of genetic disorders that are responsible for significant neonatal and infant morbidity and mortality worldwide. In developing countries like Pakistan where infant mortality is high current population based studies are unable to gauge contribution of metabolic disorders in causing mortality and morbidity. It is essential to address this gap by a review of available scattered Pakistani data related to metabolic disorders specifically congenital hypothyroidism and inborn error of metabolism to calculate probable burden of these disorders. Main body Unfortunately currently in Pakistan newborn screening which identifies these illnesses at birth as a preventive strategy are not available. For current review data was collected through a systematic search of published articles (including data related to screening in certain subgroups of patients admitted to pediatric/neonatal intensive care units, patients with developmental delay/mental retardation). Conclusion The primary aim of this review was to get an estimate of the disease burden in the Pakistani population as true prevalence of Congenital Hypothyroidism and Inborn Errors of Metabolism in Pakistan is not available. This systematic review will help us to identify the rough idea about the scale of problem in Pakistan.

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