A new defect of peroxisomal function involving pristanic acid: a case report.
J Neurol Neurosurg Psychiatry
; 72(3): 396-9, 2002 Mar.
Article
em En
| MEDLINE
| ID: mdl-11861706
ABSTRACT
AN adult onset novel disorder of peroxisomal function is described, characterised by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. The defect results in accumulation of pristanic acid, and the bile acid intermediates, dihydroxycholestanoic and trihydroxycholestanoic acid, and is due to a deficiency of alpha-methylacyl-CoA racemase, making this the first fully characterised description of this defect. Screening of patients with retinitis pigmentosa should be extended to include pristanic acid and/or bile acid intermediate concentrations, as dietary measures offer a potential treatment for the disorder.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Retinose Pigmentar
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Transtornos Peroxissômicos
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Racemases e Epimerases
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Ácidos Graxos
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Deficiências da Aprendizagem
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article