Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
Endocrinology and Metabolism
;
: 188-191, 2020.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Addison
/
Insuficiencia Suprarrenal
/
Adrenoleucodistrofia
/
Peroxisomas
/
Diagnóstico
/
Ácidos Grasos
/
Proteínas de la Membrana
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Endocrinology and Metabolism
Año:
2020
Tipo del documento:
Artículo
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