Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
Endocrinology and Metabolism
;
: 188-191, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-816614
ABSTRACT
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel ABCD1 gene mutation (p.Trp664*, c.1991 G>A).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doença de Addison
/
Insuficiência Adrenal
/
Adrenoleucodistrofia
/
Peroxissomos
/
Diagnóstico
/
Ácidos Graxos
/
Proteínas de Membrana
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Endocrinology and Metabolism
Ano de publicação:
2020
Tipo de documento:
Artigo
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