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Title: Nutritional management of aminoacidopathies in Saudi Arabia
Author: Aljammaz, S. A. I.
ISNI:       0000 0004 5358 6404
Awarding Body: University College London (University of London)
Current Institution: University College London (University of London)
Date of Award: 2014
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Background: Metabolic disorders are common in Saudi Arabia. Adherence to a special diet is essential to prevent developmental disability in phenylketonuria (PKU). Our aim was to identify the risk factors for non-compliance with treatment of aminoacidopathies and poor outcome in PKU patients at King Faisal Specialist Hospital & Research Centre in Saudi Arabia. Methods: A qualitative study assessed nutritional knowledge, attitudes and practices through interviews (n=5) and focus groups (2) with health care providers, and interviews with patients with aminoacidopathies (6) and families (17). A quantitative study assessed 40 PKU patients by anthropometric measurements, dietary records, phenylalanine blood levels, developmental assessments, and questionnaires with the patients and their mothers. The Vineland-II Adaptive Behaviour Scales were translated into Arabic and adapted to the Saudi culture to be used as the assessment tool to measure outcome. Regression analysis and independent t-tests were used to investigate relations. Results: Qualitative findings: Major themes identified: Lack of sufficient services, inadequate dietary knowledge, limited resources for families and dietitians, social and emotional attitudes towards diet, and compliance by the child and mother. Quantitative results: 1- Factors contributing to low Vineland-II Adaptive Behaviour Composite score (ABCs): a. Delayed diagnosis: Mean ABCs (}1SD) according to age at start of treatment (Significant difference p<0.0001): . Diagnosed .1 month: 92.2 (}11) . Diagnosed >1 month: 60.5 (}20.6) b. Disease severity: There was a significant difference (p=0.008) in the ABCs between patients with Mild PKU (diagnosis phenylalanine 600-1200ƒÊmol/l) and Classic PKU (diagnosis phenylalanine >1200ƒÊmol/l). 2- Factors leading to inadequate blood phenylalanine control: Delayed diagnosis, poor compliance with dietary phenylalanine restriction, and inadequate intake of the prescribed supplement. Conclusion: Newborn screening for PKU has been very successful in improving outcome but this could be further enhanced by targeted improvements in the education and support of families and in the metabolic care services.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available