An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
Journal of Genetic Medicine
;
: 43-46, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-83942
ABSTRACT
Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Parents
/
Encéphale
/
Accidents de la route
/
Dépistage génétique
/
Adrénoleucodystrophie
/
Péroxysomes
/
Membranes
/
Manifestations neurologiques
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2013
Type:
Article
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