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

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Journal of Inherited Metabolic Disease

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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Abbreviations

BTD:

Biotinidase

GSDs:

Hepatic glycogen storage diseases

GSD-Ia:

Glycogen storage disease type Ia

GSD-Ib:

Glycogen storage disease type Ib

GSD-III:

Glycogen storage disease type III

GSD-IX:

Glycogen storage disease type IX

G6PC:

Glucose-6-phosphatase gene

SLC37A4:

Glucose-6-phosphate translocase gene

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Acknowledgments

The authors gratefully acknowledge Prof. Dr. Antonio Blanco and Prof. Dr. Carlos E Argaraña for their critical reading of the manuscript. This study was supported partially by grants from SECYT (No. 05/H258) and FONCYT (PICT 05, No. 5-34226), Argentina.

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Authors and Affiliations

  1. Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina

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

  2. Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Ferroviarios 1250, 5014, Córdoba, Argentina

    Celia J. Angaroni

Authors
  1. Celia J. Angaroni
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  2. Alicia N. Giner-Ayala
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  3. Lorena P. Hill
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  4. Norberto B. Guelbert
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  5. Ana E. Paschini-Capra
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  6. Raquel Dodelson de Kremer
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Corresponding author

Correspondence to Celia J. Angaroni.

Additional information

Communicated by: Georg Hoffmann

References to electronic databases:

Biotinidase EC 3.5.1.12

Pyruvate carboxylase EC 6.4.1.1

Propionyl-CoA carboxylase EC 6.4.1.3

Methylcrotonyl-CoA carboxylase EC 6.4.1.4

Acetyl-CoA carboxylase EC 6.4.1.2

Glucokinase EC 2.7.1.2

Phosphoenol pyruvate carboxykynase EC 4.1.1.32

BTD NCBI Reference Sequence NM_000060.2

Glycogen storage disease type Ia, MIM #232200

Glycogen storage disease type Ib, MIM #232220

Glycogen storage disease type III, MIM #232400

Glycogen storage disease type IX, MIM #306000

Fructose-1,6-diphosphatase MIM #229700

Competing interest: None declared.

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Angaroni, C.J., Giner-Ayala, A.N., Hill, L.P. et al. 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), 289–294 (2010). https://doi.org/10.1007/s10545-010-9139-x

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  • DOI: https://doi.org/10.1007/s10545-010-9139-x

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