UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT

Abstract

Purpose: Due to the nature of the phenylketonuria (PKU), it is difficult to categorize these patients' needs in a treatment management. The aim of this study was to evaluate an untreated geriatric PKU patient based on International Classification of Functioning, Disability and Health (ICF). Method: The 72-year-old patient was presented with late-diagnosed and untreated PKU during his lifetime. The body structure and functions of the patient were determined by the Tinetti Scale, Sit-up test for 30-second, The Upper Extremity Index, Barthel Daily Life Activity Scale, Short Form-36 Quality of Life scales were used to determine activities and limitations. Functional Ambulation Scale and Barthel Index were used for assessing participation. Results: In this case, physical disabilities caused problems in his self-care and participation in life accompanying with cognitive problems, environmental and personal factors are negatively affecting his quality of life. Conclusion: Many aspects of the geriatric PKU's participation in life and the parameters that need to be evaluated remain uncertain. For this reason, we suggest that healthcare professionals working with individuals with geriatric PKU patients might follow the ICF qualifiers and assessment methods as in this case report.