Skip to main content
SpringerLink
Log in

Biotin-Responsive Multiple Carboxylase Deficiency

  • Chapter
Inborn Metabolic Diseases

Abstract

Four carboxylases, propionyl-coenzyme A carboxylase (PCC), 3-methylcrotonyl-coenzyme A carboxylase (MCC), pyruvate carboxylase (PC), and acetyl-coenzyme A carboxylase (ACC) require the vitamin biotin for their activity. Biotin is bound covalently to the four inactive apocarboxylases (Fig. 1) by holocarboxylase synthetase (HCS). It is released again by biotinidase after proteolytic degradation of the active holocarboxylases into short biotinyl peptides and biocytin (biotinyl-lysine), thus enabling recyling of biotin. By the same mechanism biotinidase liberates biotin from dietary sources.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

References

  1. Sweetman L, Nyhan WL (1986) Inheritable biotin-treatable disorders and associated phenomena. Ann Rev Nutr 6: 317–343

    Article  CAS  Google Scholar 

  2. Burri BJ, Sweetman L, Nyhan WL (1981) Mutant 17. holocarboxylase synthetase. Evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest 68: 1491–1495 18.

    Google Scholar 

  3. 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: 273–281

    Article  PubMed  CAS  Google Scholar 

  4. Sherwood WG, Saunders M, Robinson BH, 19. Brewster T, Gravel RA (1982) Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylases synthetase deficiency of early and late onset. J Pediatr 101: 546–550

    CAS  Google Scholar 

  5. Lehnert W, Niederhoff H, Junker A, Saule H, 20. Frasch W (1979) A case of biotin-responsive 3methylcrotonylglycine and 3-hydroxyisovaleric aciduria. Eur J Pediatr 132: 107–114

    CAS  Google Scholar 

  6. Baumgartner ER, Suormala TM, Wick H, Bausch J, Bonjour JP (1985) Biotinidase deficiency associated with renal loss of biocytin and biotin. Ann NY Acad 21. Sci 447: 272–286

    Article  CAS  Google Scholar 

  7. Baumgartner ER, Suormala TM, Wick H, Probst A, Blauenstein U, Bachmann C, Vest M (1989) 22. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res 26: 260–266

    Google Scholar 

  8. Wolf B, Heard GS, Weissbecker KA, Secor McVoy 23. J, Grier RE, Leshner RT (1985) Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 18: 614–617

    CAS  Google Scholar 

  9. Wastell HJ, Bartlett K, Dale G, Shein A (1988) 24. Biotinidase deficiency: a survey of 10 cases. Arch Dis Childhood 63: 1244–1249

    Google Scholar 

  10. Ramaekers VTH, Suormala TM, Brab M, Duran M, Heimann G, Baumgartner ER (1992) A biotinidase Km variant causing late onset bilateral 25. optic neuropathy. Arch Dis Childhood 67: 115–119

    Article  CAS  Google Scholar 

  11. Taitz LS, Leonard JV, Bartlett K (1985) Long-term auditory and visual complications of biotinidase deficiency. Early Hum Dev 11: 325–331

    Article  PubMed  CAS  Google Scholar 

  12. Diamantopoulos N, Painter MJ. Wolf B. Heard GS, Roe C (1986) Biotinidase deficiency: accumulation of lactate in the brain and response to physiological doses of biotin. Neurology 36: 1107–1109

    Article  PubMed  CAS  Google Scholar 

  13. Duran M, Baumgartner ER, Suormala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BT (1993) Cerebrospinal fluid organic acids in biotinidase deficiency. J Inherited Metab Dis 16: 513–516

    Article  PubMed  CAS  Google Scholar 

  14. Burri BJ, Sweetman L, Nyhan WL (1985) Heterogeneity in holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet 37: 326–337

    PubMed  CAS  Google Scholar 

  15. Baumgartner ER, Suormala T, Wick H, Bausch J, Bonjour JP (1985) Biotinidase deficiency: factors responsible for the increased biotin requirement. J Inherited Metab Dis 8 [Suppl 11: 59–64

    Article  Google Scholar 

  16. Suormala TM, Baumgartner ER, Bausch J, Holick W, Wick H (1988) Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography ( HPLC ). Clin Chim Acta 177: 253–270

    Google Scholar 

  17. Blom W, De Muinck Keizer SMPF, Stalte HR (1981) Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis. N Engl J Med 305: 465–466

    Article  PubMed  CAS  Google Scholar 

  18. Suormala T, Wick H, Bonjour JP, Baumgartner ER (1985) Rapid differential diagnosis of carboxylase deficiencies and evaluation of biotin responsiveness in a single blood sample. Clin Chim Acta 145: 151162

    Google Scholar 

  19. Fuchshuber A, Suormala T, Roth B, Duran M, Michalk D, Baumgartner ER (1993) Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. Eur J Pediatr 152: 446449

    Google Scholar 

  20. Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL (1981) Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics 68: 113–118

    PubMed  CAS  Google Scholar 

  21. Wolf B (1991) Worldwide Survey of neonatal screening for biotinidase deficiency. J Inherited Metab Dis 14: 923–927

    Article  PubMed  CAS  Google Scholar 

  22. Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S (1990) Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. J Inherited Metab Dis 13: 76–92

    Article  PubMed  CAS  Google Scholar 

  23. Narisawa K, Arai N, Igarashi Y, Satoh T, Tada K (1982) Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiency. J Inherited Metab Dis 5: 67–68

    Article  PubMed  CAS  Google Scholar 

  24. Velazquez A, von Raesfeld D, Gonzalez Noriega A, Gonzalez L, Garay C, Ortiz R, del Castillo V (1986) Pyruvate carboxylase responsive to ketosis in a multiple carboxylase deficient patient. J Inherited Metab Dis 9 [Suppl 2]: 300–302

    Article  Google Scholar 

  25. Michalski AJ, Berry GT, Segal S (1989) Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. J Inherited Metab Dis 12: 312–316

    Article  PubMed  CAS  Google Scholar 

  26. Packman S, Cowan MJ, Golbus MS, Caswell NM, 30. Sweetman L, Burri BJ, Nyhan WL, Baker H (1982) Prenatal treatment of biotin-responsive multiple carboxylase deficiency. Lancet 1: 1435–1439

    CAS  Google Scholar 

  27. Roth KS, Yang W, Allan L, Saunders M, Gravel RA, Dakshinamurti K (1982) Prenatal administration of biotin in biotin responsive multiple carboxy- 31. lase deficiency. Pediatr Res 16: 126–129

    Article  PubMed  CAS  Google Scholar 

  28. Heard GS, Wolf B, Jefferson LG, Weissbecker KA, Nance WE, Secor McVoy JR, Napolitano A, Mitchell PL, Linyear AL (1986) Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. J Pediatr 108: 40–46

    Article  PubMed  CAS  Google Scholar 

  29. Secor McVoy JR, Levy HL, Lawler M, Schmidt MA, Ebers DD, Hart PS, Dove Pettit D, Blitzer MG, Wolf B (1990) Partial biotinidase deficiency: clinical and biochemical features. J Pediatr 116: 78–83

    Article  PubMed  CAS  Google Scholar 

  30. Saunders M, Sweetman L, Robinson B, Roth K, Cohn R, Gravel RA (1979) Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. J Clin Invest 64: 1695–1702

    Google Scholar 

  31. Jakobs C, Sweetman L, Nyhan WL, Packman S (1984) Stable isotope dilution analysis of 3hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. J Inherited Metab Dis 7: 15–20

    Article  PubMed  CAS  Google Scholar 

  32. Wolf B, Heard GS, Jefferson LG, Weissbecker KA, Secor McVoy JR, Nance WE, Mitchell PL, Lambert FW, Linyear AS (1986) Newborn screening for biotinidase deficiency. In: Carter TP, Willey AM (eds) Genetic disease: screening and management. Liss, New York, pp 175–182

    Google Scholar 

Download references

Authors
  1. R. Baumgartner
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T. Suormala
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. University Children’s Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M.D.

  2. Hospital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M.D.

  3. International Institute of Cellular and Molecular Pathology, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe M.D.

  4. Sendai, Japan

    K. Tada

  5. Portland, Oregon, USA

    N. R. M. Buist

Rights and permissions

Reprints and permissions

Copyright information

© 1995 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Baumgartner, R., Suormala, T. (1995). Biotin-Responsive Multiple Carboxylase Deficiency. In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_23

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-03147-6_23

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03149-0

  • Online ISBN: 978-3-662-03147-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation