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01.10.2010 | Newborn Screening

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

verfasst von: Celia J. Angaroni, Alicia N. Giner-Ayala, Lorena P. Hill, Norberto B. Guelbert, Ana E. Paschini-Capra, Raquel Dodelson de Kremer

Erschienen in: Journal of Inherited Metabolic Disease | Sonderheft 2/2010

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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.

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Titel: Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook
verfasst von: Celia J. Angaroni
Alicia N. Giner-Ayala
Lorena P. Hill
Norberto B. Guelbert
Ana E. Paschini-Capra
Raquel Dodelson de Kremer
Publikationsdatum: 01.10.2010
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe Sonderheft 2/2010
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-010-9139-x

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