국내 갈락토스혈증 아동의 식생활 관리에 대한 주 보호자와 임상전문가의 인식 및 지원 요구도 조사 = Perception and Demand of Primary Caregivers and Clinical Experts for the Dietary Management of Children with Galactosemia in Korea

다국어 초록 (Multilingual Abstract)

Galactosemia is a rare genetic metabolic disease caused by galactose and its metabolites generated during carbohydratemetabolism, which is relatively rare in Asian countries, including Korea. Patients with galactosemia should be treated witha galactose-restricted diet. However, information is lacking about the exact content of galactose in food, and dietaryguidelines for patients with galactosemia in Korea. This study aims to recognize the difficulties faced by parents and clinicalexperts of patients with galactosemia, and understand their demands. Totally, 5 parents of children diagnosed withgalactosemia and 5 clinical professionals participated in the focus group interviews. The parents’ interview focused on thedaily life of the patient, which included diet and social difficulties. The clinical experts mainly answered about medical care,including the number and status of patients, and their suggestions for effective treatment. Most parents were worried aboutsocial isolation due to conflicts in the family as well as in society due to a lack of understanding of the disease. The clinicalexperts stated the absence of a disease management system as the greatest problem. An integrated support system forpatients with galactosemia, which includes appropriate dietary guidelines by considering the domestic environment, isrequired.

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