Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
Neuropediatrics
; 37(1): 20-5, 2006 Feb.
Article
em En
| MEDLINE
| ID: mdl-16541364
ABSTRACT
The clinical, neurophysiological and neuroradiological work-up as well as the results of a specific treatment trial are presented of the first patient diagnosed with beta-ureidopropionase deficiency (E.C. 3.5.1.6, McKusick 606673). The patient presented with an early-onset dystonic movement disorder, severe developmental delay with marked impairment of visual responsiveness in combination with severely delayed myelination in magnetic resonance imaging studies. In addition, there were partial optic atrophy, pigmentary retinopathy and mild cerebellar hypoplasia. The enzyme defect was expected to lead to intracerebral deficiency of beta-alanine which seems to be a neuromodulator at inhibitory synapses. Therefore, a therapeutic trial with supplementation of beta-alanine was undertaken over 1.5 years with no convincing clinical improvement.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo da Purina-Pirimidina
/
Beta-Alanina
/
Amidoidrolases
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Alemanha