Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
Journal of Genetic Medicine
; : 17-19, 2018.
Article
in En
| WPRIM
| ID: wpr-715206
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Parents
/
Arthritis
/
Tyrosine
/
Internet
/
Databases, Genetic
/
Rare Diseases
/
Diagnosis
/
Alkaptonuria
/
Homogentisate 1,2-Dioxygenase
/
Metabolism
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article