Screening for aminoacidopathies using cost effective methods in symptomatic children: A cross sectional study

Authors

DOI:

https://doi.org/10.3126/ajms.v12i2.31497

Keywords:

Inborn errors of metabolism, Aminoacidosis, HPLC, TLC, Aminoacidopathies

Abstract

Background: Inborn errors of metabolism (IEM) are a cluster of hereditary disorders which are caused due to defect in one or more enzymes or disturbance in the protein transport system.

Aims and Objective: The aim of this work was to find out the frequency of aminoacidopathies among symptomatic children and to emphasis about cost effective screening of aminoacidopathies in order to minimize morbidity and mortality.

Materials and Methods: This cross-sectional study recruited 264 symptomatic children from infants to 15 years of age. Random urine samples (15ml) in sterile container and 1-2 ml of blood in EDTA vials were collected and stored at -20˚C. Color reactions, TLC and HPLC were done in urine and blood samples for amino acid disorders.

Results: The prevalence of aminoacidopathies was found high in early age (45.1%), males (55.3%), rural areas (75%) and Muslims (39%). A total of 127 out of 264 (48.1%) symptomatic cases showed at least one of the positive colored tests. Mean hemoglobin level was lower than the normal reference range. 7.7% children had severe anemia (Hb < 7 g/dl). TLC of all these 127 samples was done for amino acids. The results showed positive elevated amino acids in 61 cases (48%). Out of 61 cases only 29 cases were positive for amino acid disorders by HPLC. Generalized aminoaciduria was the common followed by MSUD and tyrosinuria. Based on combination of these three tests, we were able to detect 10.98% (29/264) cases of aminoacidopathies.

Conclusions: Hence this study focused using a set of rapid, easy and cost effective simple tests for screening in symptomatic children. There is need to increase the awareness in developing country like India regarding the availability of such affordable and reliable tests.

Downloads

Download data is not yet available.
Abstract
273
PDF
341
Cover AJMS 12(2)

Downloads

Published

2021-02-01

How to Cite

Fatima, N., Sonkar, G. K., Tripathi, S., Singh, S., & Mahdi, A. A. (2021). Screening for aminoacidopathies using cost effective methods in symptomatic children: A cross sectional study. Asian Journal of Medical Sciences, 12(2), 36–43. https://doi.org/10.3126/ajms.v12i2.31497

Issue

Vol. 12 No. 2 (2021)

Section

Original Articles

License

Authors who publish with this journal agree to the following terms:

  1. The journal holds copyright and publishes the work under a Creative Commons CC-BY-NC license that permits use, distribution and reprduction in any medium, provided the original work is properly cited and is not used for commercial purposes. The journal should be recognised as the original publisher of this work.
  2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).