ArticlePakistan journal of medical sciences
Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country.
Article in Pakistan journal of medical sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.Journal of inherited metabolic disease · 2026Article
- Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.Journal of inherited metabolic disease · 2025Article
- Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi - A retrospective chart review.Pakistan journal of medical sciences · 2024Article
- Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.Annals of medicine and surgery (2012) · 2022Article
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Authors and funding
4 authors.
Funding
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Abstract
objectiveThis study was done to determine the factors responsible for non-treatment of inherited metabolic disorders (IMDs) requiring food for special medical purposes (FSMPs) in Pakistan.
methodsA descriptive cross-sectional study was conducted by Departments of Pediatrics & Child Health and Pathology & Laboratory Medicine, Aga Khan University. Patients diagnosed with IMDs from January 2013 to December 2016 requiring FSMPs were surveyed after a year of initial diagnosis to collect the details of treatment advised, mortality status, and reasons of non-treatment, including not prescribed by physician, non-acceptance by family, non-availability or non-affordability.
resultsOver four years period, 311 patients were identified with IMDs; Median age of patients was 1.0 yrs (0.0.2-3.65) with 54% (n=168) being male. Of the total 38.2% (n=119) required FSMPs, 9% (n=28) patients were excluded due to unavailability of diagnostics information. Parents of 58 patients requiring FSMPs out of 119 participated in survey. The leading causes of non-treatment were, FSMPs not prescribed by physicians (n= 30, 51.7%) followed by non-affordability (n=23, 39.6%), families' unacceptance in (n=9, 18%) patients, non-availability of FSMPs (n=2, 3.4%) and early death of patient (n=1, 1.7%).
conclusionThe main factors responsible for non-treatment of FSMPs requiring IMDs were non-prescription by physician and non-affordability.
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