학술논문
Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
이용수 2
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Sang-Yeun Cho Ja Hye Kim
- 간행물 정보
- 『대한의학유전학회지』제15권 제1호, 17~19쪽, 전체 3쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2018.06.30
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국문 초록
영문 초록
Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with dark urine discoloration, and ochronosis and arthritis develop after third decades of life. With advances of Internet resources, web-based health seekers for rare disease are increasing. Here, we report the case of an 18-year-old boy with AKU who visited our center due to dark black urine based on self-diagnosis via web searching of this rare condition. Compound heterozygous mutations in HGD gene, IVS5+3A>C and IVS12+6T>C were identified and both of mutations were detected in his parents. Our case illustrates the utility of publicly available Internet resources for diagnosis of rare disease.
목차
Introduction
Case
Discussion
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