Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
J Inherit Metab Dis
; 33(Suppl 2): S289-94, 2010 Oct.
Article
em En
| MEDLINE
| ID: mdl-20532819
ABSTRACT
Repeated evaluation of biotinidase (BTD) activity was carried out for a long-term follow-up in patients with hepatic glycogen storage diseases (GSDs). The results indicated inter-intra variability among the GSD-Ia, GSD-III and GSD-IX patients. In addition, a c.1330G>C transversion in the BTD gene, resulting in a p.Asp444His substitution was detected in one allele of a GSD-Ia patient with sustained normal enzyme activity. Thus far, it is necessary to be cautious in the interpretation of the results of BTD activity as a presumptive GSD diagnostic element. It is not known why plasma BTD activity increases in GSDs patients, or the clinical importance of the increment. When viewed from a global perspective, there are some lines of biotin biology that could indicate a relationship between BTD´s behavior and GSDs.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio
/
Biotinidase
/
Fígado
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Humans
País como assunto:
America do sul
/
Argentina
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article