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Updated: Mar 2, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children

Noreen Abbas Sherazi1, Aysha Habib Khan1, Lena Jafri1

  • 1Departments of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|May 12, 2017
PubMed

Insights

This study determined the frequency of organic acidurias (OA) and amino acidopathies (AA) in high-risk Pakistani children. The findings highlight the prevalence of these inherited metabolic disorders in the local pediatric population.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Inherited metabolic disorders (IMDs) like organic acidurias (OA) and amino acidopathies (AA) pose significant health challenges.
  • Accurate diagnosis and understanding the frequency of these conditions are crucial for early intervention and management.

Purpose of the Study:

  • To determine the frequency of organic acidurias (OA) and amino acidopathies (AA) in a selected high-risk pediatric population.
  • To provide local data on the prevalence of these specific inherited metabolic disorders.

Main Methods:

  • A retrospective observational study was conducted at Aga Khan University Hospital, Karachi, from January 2013 to December 2014.
  • Amino acids and organic acids were analyzed using high-performance liquid chromatography and gas chromatography-mass spectrometry.
  • Clinical data and chromatograms of patients screened for IMDs were reviewed by a chemical pathologist and metabolic physician.

Main Results:

  • Out of 1,866 specimens analyzed, 88 cases (4.7%) were diagnosed, including 41 OA (46.5%) and 28 AA (31.8%).
  • The median age of patients was 1.1 years, with a high consanguinity rate of 64.8%.
  • Specific diagnoses included methyl CoA mutase deficiency, maple syrup urine disease, cystathionine beta-synthetase deficiency, urea cycle disorders, and hyperphenylalaninemia, among others.

Conclusions:

  • This study provides the frequency of OA and AA in a high-risk Pakistani pediatric population.
  • The findings contribute to local epidemiological data for inherited metabolic disorders, aiding in diagnostic and management strategies.
Abstract

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