Skip to main content
SpringerLink
Log in

Multiple Carboxylase Deficiency

  • Chapter
Magnetic Resonance of Myelination and Myelin Disorders

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 509.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 649.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

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.

References and Further Reading

  • Bakker HD, Westra M, Overweg-Plandsoen WCG, Waveren van G, Sillevis-Smitt JH, Abeling NGGM, Wanders RJA, Schutgens RBH, Gennip van AH. Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. Eur J Pediatr 1994; 153: 861–866

    Article  CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Baumgartner ER, Suormala T. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. Int J Vitam Nutr Res 1997; 67: 377–384

    CAS  PubMed  Google Scholar 

  • Bay CA, Berry GT, Glauser TA, Hayward JC, Wolf B, Sladky JT, Kaplan P. Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. J Inherit Metab Dis 1995; 18: 701–704

    CAS  PubMed  Google Scholar 

  • Bousounis DP, Camfield PR, Wolf B. Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics 1993; 24: 214–217

    CAS  PubMed  Google Scholar 

  • Casado de Frías E, Campos-Castellü J, Careaga Maldonado J, Pérez Cerdá C. Biotinidase deficiency: result of treatment with biotin from age 12 years. Eur J Paediatr Neurol 1997; 1:173–176

    PubMed  Google Scholar 

  • Cornejo Navarro P, Guerra A, Alvarez JG, Ortiz FJ. Cutaneous and neurologic manifestations of biotinidase deficiency. Int J Dermatol 2000; 39: 363–382

    Google Scholar 

  • Fuchshuber A, Suormala T, Roth B, Duran M, Michalk D, Baumgartner ER. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. Eur J Pediatr 1993; 152: 446–449

    Article  CAS  PubMed  Google Scholar 

  • Gibson KM, Bennett MJ, Nyhan WL, Mize CE. Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis 1996; 19: 739–742

    CAS  PubMed  Google Scholar 

  • Ginat-Israeli T, Hurvitz H, Klar A, Blinder G, Branski D, Amir N. Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. Neuropediatrics 1993; 24:103–106

    CAS  PubMed  Google Scholar 

  • Haagerup A, Brandt Andersen J, Blichfeldt S, Fjord Christensen M. Biotinidase deficiency: two cases of very early presentation. Dev Med Child Neurol 1997; 39: 832–835

    CAS  PubMed  Google Scholar 

  • Honavar M, Janota I, Neville BGR, Chalmers RA. Neuropathology of biotinidase deficiency. Acta Neuropathol (Berl) 1992; 84: 461–464

    Article  CAS  PubMed  Google Scholar 

  • Hymes J, Wolf B. Biotinidase and its roles in biotin metabolism. Clin Chim Acta 1996; 255: 1–11

    Article  CAS  PubMed  Google Scholar 

  • Kalayci Ö, Coskun T, Tokatli A, Demir E, Erdem G, Güngör C, Yükselen A, Özalp I. Infantile spasms as the initial symptom of biotinidase deficiency. J Pediatr 1994; 124: 103–104

    CAS  PubMed  Google Scholar 

  • Kimura M, Fukui T, Tagami Y, Fujiwaki T, Yokoyama M, Ishioka C, Kumasaka K, Terada N, Yamaguchi S. Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation. J Inherit Metab Dis 2003; 26:715–719

    Article  CAS  PubMed  Google Scholar 

  • Livne M, Gibson M, Amir N, Eshel G, Elpeleg ON. Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. J Child Neurol 1994; 9:170–172

    CAS  PubMed  Google Scholar 

  • Mardach R, Zempleni J, Wolf B, Cannon MJ, Jennings ML, Cress S, Boylan J, Roth S, Cederbaum S, Mock DM. Biotin dependency due to a defect in biotin transport. J Clin Invest 2002; 109: 1617–1623

    Article  CAS  PubMed  Google Scholar 

  • Mitchell G, Ogier H, Munnich A, Saudubray JM. Neurological deterioration and lactic acidemia in biotinidase deficiency — a treatable condition mimicking Leigh’s disease. Neuropediatrics 1986; 17: 129–131

    CAS  PubMed  Google Scholar 

  • Möslinger D, Stöckler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Mühl A, Seidl R, Strobl W, Plecko B, Suormala T, Regula Baumgartner ER. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Eur J Pediatr 2001; 160: 277–282

    PubMed  Google Scholar 

  • Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B. Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children:molecular, biochemical, and clinical analysis. Pediatr Res 1997; 42: 840–848

    CAS  PubMed  Google Scholar 

  • Rahman S, Standing S, Dalton RN, Pike MG. Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. Dev Med Child Neurol 1997; 39: 830–831

    CAS  PubMed  Google Scholar 

  • Ramaekers VT, Suormala TM, Brab M, Duran R, Heimann G, Baumgartner ER. A biotinidase Km variant causing late onset bilateral optic neuropathy. Arch Dis Child 1992; 67:115–119

    CAS  PubMed  Google Scholar 

  • Ramaekers VT, Brab M, Rau G, Heimann G. Recovery from neurological deficits following biotin treatment in a biotinidase Km variant. Neuropediatrics 1993; 24: 98–102

    CAS  PubMed  Google Scholar 

  • Salbert BA, Astruc J, Wolf B. Ophthalmologic findings in biotinidase deficiency. Ophthalmologica 1993; 206: 177–181

    CAS  PubMed  Google Scholar 

  • Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology 1993; 43:1351–1355

    CAS  PubMed  Google Scholar 

  • Sander JE, Malamud N, Cowan MJ, Packman S, Amman AJ, Wara DW. Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. Ann Neurol 1980; 8: 544–547

    CAS  PubMed  Google Scholar 

  • Schürmann M, Engelbrecht V, Lohmeier K, Lenard HG, Wendel U, Gärtner J. Cerebral metabolic changes in biotinidase deficiency. J Inherit Metab Dis 1997; 20: 755–760

    Article  PubMed  Google Scholar 

  • Schultz PE, Weiner SP, Belmont JW, Fishman MA. Basal ganglia calcifications in a case of biotinidase deficiency. Neurology 1988; 38: 1326–1328

    Google Scholar 

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

    Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • Suormala T, Ramaekers VTh, Schweitzer S, Fowler B, Laub MC, Schwermer C, Bachmann J, Baumgartner ER. Biotinidase Km-variants: detection and detailed biochemical investigations. J Inherit Metab Dis 1995; 18: 689–700

    CAS  PubMed  Google Scholar 

  • Suormala T, Fowler B, Jakobs C, Duran M, Lehnert W, Raab K, Wick H, Baumgartner ER. Late-onset holocarboxylase synthetase-deficiency: pre-and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr 1998; 157: 570–575

    Article  CAS  PubMed  Google Scholar 

  • Sweetman L, Nyhan WL. Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr 1986; 6: 317–343

    Article  CAS  PubMed  Google Scholar 

  • Tsao CY, Kien CL. Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. J Child Neurol 2002; 17: 146

    PubMed  Google Scholar 

  • Wiznitzer M, Bangert BA. Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. Pediatr Neurol 2003; 29: 56–58

    Article  PubMed  Google Scholar 

  • Wolf B, Heard GS. Biotinidase deficiency. Adv Pediatr 1991; 38:1–21

    CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Wolf B, Heard GS, Weissbecker KA, Secor McVoy JR, Grier RE, Leshner RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985; 18: 614–617

    Article  CAS  PubMed  Google Scholar 

  • Wolf B, Norrgard K, Pomponio RJ, Mock DM, Secor McVoy JR, Fleischhauer K, Shapiro S, Blitzer MG, Hymes J. Profound biotinidase deficiency in two asymptomatic adults. Am J Med Genet 1997; 73: 5–9

    Article  CAS  PubMed  Google Scholar 

  • Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Regula Baumgartner E, Suormala T, Ramaekers VTh, Coskun T, Tokatli A, Ozalp I, Hymes J. Delayed-onset profound biotinidase deficiency. J Pediatr 1998; 132: 362–365

    CAS  PubMed  Google Scholar 

  • Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr 2002; 140: 242–246

    PubMed  Google Scholar 

  • Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J. Seventeen novel mutations that cause profound biotinidase deficiency. Mol Gen Metab 2002; 77: 108–111

    CAS  Google Scholar 

Download references

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

(2005). Multiple Carboxylase Deficiency. In: Magnetic Resonance of Myelination and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27660-2_30

Download citation

  • DOI: https://doi.org/10.1007/3-540-27660-2_30

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22286-6

  • Online ISBN: 978-3-540-27660-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation