|
KMID : 1189120180150010017
|
|
대한의학유전학회지
2018 Volume.15 No. 1 p.17 ~ p.19
|
|
|
Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
|
|
Cho Sang-Yeun
Kim Ja-Hye
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Alkaptonuria, Homogentisate 1,2-dioxygenase, Ochronosis, Tyrosine
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|