Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
Journal of Genetic Medicine
;
: 17-19, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-715206
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Artrite
/
Tirosina
/
Internet
/
Bases de Dados Genéticas
/
Doenças Raras
/
Diagnóstico
/
Alcaptonúria
/
Homogentisato 1,2-Dioxigenase
/
Metabolismo
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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