Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases.
- Author:
Sang Yeun CHO
1
;
Ja Hye KIM
Author Information
- Publication Type:Case Report
- Keywords: Alkaptonuria; Homogentisate 1,2-dioxygenase; Ochronosis; Tyrosine
- MeSH: Adolescent; Alkaptonuria*; Arthritis; Databases, Genetic; Diagnosis; Homogentisate 1,2-Dioxygenase; Humans; Internet*; Male; Metabolism; Ochronosis; Parents; Rare Diseases*; Tyrosine
- From:Journal of Genetic Medicine 2018;15(1):17-19
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
