Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

• 발행기관: 대한의학유전학회
• 저자명: Sang-Yeun Cho Ja Hye Kim
• 간행물 정보: 『대한의학유전학회지』제15권 제1호, 17~19쪽, 전체 3쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2018.06.30

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

키워드

Alkaptonuria Homogentisate 1 2-dioxygenase Ochronosis Tyrosine