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Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
J Genet Med 2018;15:17-19
Published online June 30, 2018;
© 2018 Korean Society of Medical Genetics and Genomics.

Sang-Yeun Cho and Ja Hye Kim*

Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea
Ja Hye Kim, M.D.
Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine, 222-1 Wangsimni-ro, Seongdong-gu, Seoul 04763, Korea.
Tel: +82-42-350-4268, Fax: +82-42-350-4240, E-mail:
Received May 14, 2018; Revised June 7, 2018; Accepted June 8, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Alkaptonuria, Homogentisate 1,2-dioxygenase, Ochronosis, Tyrosine.

June 2018, 15 (1)
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