Abstract
Objective:This 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.Methods:A 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.Results:Over 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%).Conclusion:The main factors responsible for non-treatment of FSMPs requiring IMDs were non-prescription by physician and non-affordability.
Highlights
Inherited metabolic disorders (IMDs) encompass a heterogeneous group of genetic diseases due to defective metabolic processes
Grouping of Inherited Metabolic Disorders: Organic acidemias and aminoacidopathies were categorized into two groups; Decompensation Group, which present with metabolic decompensation and encephalopathy and may lead to death when untreated
Survey to identify factors leading to treatment noninitiation or discontinuation: Data analysis was done using the Chi-square test to identify factors leading to non-initiation or discontinuation
Summary
Inherited metabolic disorders (IMDs) encompass a heterogeneous group of genetic diseases due to defective metabolic processes. Effective treatment of a group of IMD depends primarily on dietary restriction because off-the-shelf foods cannot be metabolized by these patients, resulting in toxic effects.[6] Typically, a healthcare provider prescribes a specialized diet restricting the offending metabolites that cannot be metabolized while monitoring and providing all the other necessary metabolites essential for normal growth and development.[4] For example, individuals with phenylketonuria are unable to properly metabolize the amino acid phenylalanine, which must be selectively limited in their diet to prevent severe intellectual disability.[7,8] Disorders of amino acid and fatty acid metabolism require medical foods that restrict the offending amino acid(s) or long-chain fatty acids.[9,10,11]
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