Screening of Inborn Errors of Metabolism – Use of Current and Future Technology in Indian Scenario
Journal Title: International Journal of Health Sciences and Research - Year 2017, Vol 7, Issue 8
Abstract
IEM screening is a vital process that identifies apparently healthy infants with serious inherited disorders, generally metabolic in origin, that are usually correctable by dietary or drug interventions before they suffer significant morbidity or mortality. IEM is autosomal recessive, the defective gene is present in both parents, and these can be passed on from generation to generation. The incidence of IEM varies in different geographical regions and different ethnic groups. Approach to metabolomics is important for detection of IEM because their basic pathophysiology is very much related to metabolism. Dried blood (and other biofluids) spots samples (DBS) have also been investigated. The most advanced and now a day’s used technologies includes nuclear magnetic resonance (NMR) spectroscopy], and mass spectrometry (MS), either combined or not to a gas phase or liquid phase separation method. Early recognition of IEM by screening tests in combination with strong clinical suspicion will help the clinicians to initiate prompt early treatment to prevent lethal neurological complications and developmental delay. The future of IEM diagnosis may be found in the developing area of metabolomics by doing simultaneous quantitative metabolic profiling of many metabolites in biological fluids.
Authors and Affiliations
Nazmin Fatima
Keywords
Related Articles
- EP ID EP374365
- DOI -
- Views 59
- Downloads 0
Evans Syndrome as Rare Presentation in Systemic Lupus Erythematosus
Evans syndrome is a rare disorder in which the body’s immune system produces antibodies that mistakenly destroy red blood cells, platelets and sometimes certain white blood cell known as neutrophils. It is one of the rar...
Association between Breastfeeding Practices and Nutritional Status of Children Aged 6-24 Months in Jessore, Bangladesh
Background: Breast milk has a major impact on child health, growth and development. Childhood malnutrition remains one of the most challenging global public health problems especially in developing country. Aim and obje...
Monophasic Synovial Sarcoma of Knee: A Case Report
Synovial sarcoma usually arises in the soft tissues of the extremities and rarely presents as a primary bone tumor. Here, we report a case of a 40 year old female who came with complaints of a swelling in her right knee...
Comparative Evaluation of the Fracture Resistance of Endodontically Treated Maxillary Central Incisors Restored with Pre-Fabricated Glass Fiber Posts and Experimental Dentin Posts an in Vitro Study
Aim: Comparative evaluation of the fracture resistance of endodontically treated maxillary central incisors restored with prefabricated glass fiber posts and experimental dentin posts prepared human root dentin. Material...
Therapeutic Efficacy of Munzij wa Mushil-E-Balgham (Poly Herbal Formulation) and Dalk (Massage) with Roghan-E-Farfiyun in the Management of Irqunnasa (Sciatica): An Open Labelled Clinical Trial
Sciatica is the pain that originates deep in the buttock and radiates towards the posterolateral thigh; may continue to the calf, medial malleolus (L4), lateral malleolus (L5) or heel (S1). In Unani system of medicine, I...