Related Experiment Video
Updated: Jan 16, 2026
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Unveiling the hidden burden: challenges and spectrum of inborn errors of metabolism in LMICs
Sumreena Mansoor1, Zarmast Khan2,3
1Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan. sumreena.scm@stmu.edu.pk.
Insights
Inborn Errors of Metabolism (IEM) pose a significant health challenge in Pakistan, with scarce data hindering diagnosis and timely intervention. Improving diagnostic capacity and genetic testing is crucial to reduce child morbidity and mortality.
Area of Science:
- Pediatric Medicine
- Clinical Genetics
- Metabolic Disorders
Background:
- Inborn Errors of Metabolism (IEM) are a major cause of illness and death in children, especially in resource-limited areas.
- Pakistan lacks comprehensive data on IEMs, leading to underdiagnosis and delayed treatment.
Purpose of the Study:
- To investigate the spectrum and outcomes of IEMs in Pakistani children.
- To highlight challenges in diagnosis and management in a low-middle-income country.
Main Methods:
- Retrospective review of medical records for children with suspected IEMs.
- Diagnosis based on biochemical tests and enzyme assays over a five-year period.
Main Results:
- 64 patients diagnosed with various IEMs, including glycogen storage disorders, galactosemia, and congenital adrenal hyperplasia.
- Delayed diagnosis, limited genetic testing, and financial constraints led to poor outcomes and high mortality.
- One case misdiagnosed as drug overdose, six lacked sufficient data.
Conclusions:
- Urgent need to enhance diagnostic capacity for IEMs in Pakistan.
- Establishing genetic testing facilities, including whole-exome sequencing and gene panels, is critical.
- Addressing diagnostic and financial barriers is essential to reduce IEM-related morbidity and mortality.
Background:
Inborn Errors of Metabolism (IEM) are an important cause of morbidity and mortality in neonates and children, particularly in resource-limited settings. In Pakistan, comprehensive data on IEMs remain scarce, contributing to underdiagnosis and delayed interventions.
Methods:
This retrospective study reviewed medical records of children presenting with suspected IEMs to a tertiary care hospital in Islamabad between January 2014 and May 2019. Cases were identified through medical record coding, and diagnoses were based on biochemical tests and enzyme assays.
Results:
A total of 64 patients were identified. Diagnoses included glycogen storage disorders (n = 15), galactosemia (n = 3), Gaucher's disease (n = 3), mucopolysaccharidosis (n = 4), congenital adrenal hyperplasia (n = 19), and unspecified IEMs (n = 20). One case was initially misdiagnosed as drug overdose, while six cases lacked sufficient data for classification. Delayed diagnosis, limited availability of genetic testing, and financial constraints resulted in predominantly symptomatic management. Outcomes were poor, with many patients succumbing during care.
Conclusion:
This study highlights the urgent need for improved diagnostic capacity for IEMs in Pakistan. The establishment of genetic testing facilities, including whole-exome sequencing and a cost-effective IEM gene panel, is critical to enable timely and accurate diagnosis, improve clinical management, and ultimately reduce morbidity and mortality in affected children.
Impact:
The study highlights the significant burden of Inborn Errors of Metabolism (IEM) in a low-middle-income country, emphasizing the challenges of late diagnosis, lack of genetic diagnostic tools, and poor follow-up due to financial constraints. This study adds critical insights into the prevalence, spectrum, and clinical outcomes of IEMs in Pakistan. It identifies specific gaps in diagnostic infrastructure, management practices, and healthcare accessibility in resource-limited settings. The study emphasizes the importance of addressing diagnostic and financial barriers to reduce the morbidity and mortality associated with IEMs in Pakistan.
More Related Videos
11:02Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
Published on: November 29, 2024
10:44Mass Spectrometry and Luminogenic-based Approaches to Characterize Phase I Metabolic Competency of In Vitro Cell Cultures
Published on: March 28, 2017
Related Concept Videos
01:20Inborn Errors of Metabolism
01:21Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:27Protein Import into the Peroxisomes
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
01:19Overview of Carbohydrate Metabolism
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...