Skip to main content
SpringerLink
Log in

Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Summary

An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other types of hepatic GSDs. Serum biotinidase activity was measured in a total of 68 GSD patients and was compared with that of healthy controls (8.7 ±10; range 7.0–10.6 mU/ml; n=6). We found an increased biotinidase activity in patients with GSD Ia (17.7 ±3.9; range: 11.4–24.8; n=21), GSD I non-a (20.9 ±5.6; range 14.6–26.0; n=4), GSD III (12.5 ±–3.6; range 7.8–19.1; n=3), GSD VI (15.4 ±–2.0; range 14.1–17.7; n=) and GSD IX (14.0 ±–3.8; range: 7.5–21.6; n=22). The sensitivity of this test was 100% for patients with GSD Ia, GSD I non-a and GSD VI, 62% for GSD III, and 77% for GSD IX, indicating reduced sensitivity for GSD III and GSD IX, respectively. In addition, we found elevated biotinidase activity in all sera from 5 patients with Fanconi–Bickel Syndrome (15.3 ±–3.7; range 11.0–19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Burlina AB, Dermikol M, Muntau A, et al (1996) Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation. J Inherit Metab Dis 19: 209-12.

    Article  CAS  PubMed  Google Scholar 

  • Grier RE, Heard GS, Watkins P, Wolf B (1990) Low biotinidase activities in the sera of patients with impaired liver function: evidence that the liver is the source of serum biotinidase. Clin Chim Acta 186: 397-00.

    Article  CAS  PubMed  Google Scholar 

  • Hers HG (1964) Glycogen storage disease. Adv Metab Disord 13: 1-4.

    CAS  PubMed  Google Scholar 

  • Hug G, Chuck G, Tsoras M (1994) Increased serum biotinidase activity in glycogen storage disease type Ia. Pediatr Res 35: 203A.

    Google Scholar 

  • Hymes J, Wolf B (1996) Biotinidase and its roles in biotin metabolism. Clin Chim Acta 255: 1-1.

    Article  CAS  PubMed  Google Scholar 

  • Lederer B, Van Hoof F, Van den Berghe G, Hers H (1975) Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency. Biochem J 147: 23-5.

    CAS  PubMed  Google Scholar 

  • Nennstiel-Ratzel U, Blankenstein O, Ceglarek U, Starke I, Stoppsack M, Rauterberg E, Schulze A (2004) National Screening Report 2004 DGNS (German Association for Newborn Screening).

  • Pabuccuoglu A, Aydogdu S, Bas M (2002) Serum biotinidase activity in children with chronic liver disease and its clinical significance. J Pediatr Gastroenterol Nutr 34: 59-2.

    Article  CAS  PubMed  Google Scholar 

  • Saltik IN, Ozen H, Kocak N, Yuce A, Gurakan F (2000) High biotinidase activity in type Ia glycogen storage disease. Am J Gastroenterol 95: 2144.

    CAS  PubMed  Google Scholar 

  • Seifter S, Dayton S, Novic B, Muntwyler E (1950) The estimation of glycogen with the anthrone reagent. Arch Biochem 25: 191-00.

    CAS  PubMed  Google Scholar 

  • Van Hoof F (1967) Amylo-1,6-glucosidase activity and glycogen content of the erythrocytes of normal subjects, patients with glycogen storage disease and heterozygotes. Eur J Biochem 2: 271-74.

    Article  PubMed  Google Scholar 

  • Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL (1983) Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 131: 273-81.

    Article  CAS  PubMed  Google Scholar 

  • Wolf B, Freehauf CL, Thomas JA, Gordon PL, Greene CL, Ward JC (2003) Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. J Inherit Metab Dis 26: 805-09.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Metabolism and Molecular Pediatrics, University Children’s Hospital, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland

    P. Paesold-Burda, M. R. Baumgartner, N. U. Bosshard & B. Steinmann

  2. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    R. Santer

Authors
  1. P. Paesold-Burda
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. R. Baumgartner
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. Santer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. N. U. Bosshard
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. B. Steinmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to B. Steinmann.

Additional information

Communicating editor: Michael Gibson

Competing interests: None declared

References to electronic databases: Glycogen storage disease (GSD) Ia: OMIM 232200. GSD I non-a: OMIM 232220. GSD III: OMIM 232400. GSD VI: OMIM 232700. GSD IX: OMIM 306000. Fanconi–Bickel syndrome: OMIM 227810. Cystic fibrosis: OMIM 602421. Gaucher disease: OMIM 230800. Niemann–Pick disease (NP) type A: OMIM 257200. NP type C: OMIM 257220.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Paesold-Burda, P., Baumgartner, M.R., Santer, R. et al. Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker. J Inherit Metab Dis 30, 896–902 (2007). https://doi.org/10.1007/s10545-007-0734-4

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-007-0734-4

Keywords

Search

Navigation