J Genet Med.  2018 Jun;15(1):17-19. 10.5734/JGM.2018.15.1.17.

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

  • 1Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea. whiyoo@gmail.com


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.


Alkaptonuria; Homogentisate 1,2-dioxygenase; Ochronosis; Tyrosine
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