Journal of Inherited Metabolic Disease

, Volume 16, Issue 3, pp 537–540 | Cite as

Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities

  • A. Ribes
  • E. Riudor
  • R. Valcárel
  • A. Salvá
  • F. Castelló
  • S. Murillo
  • C. Dominguez
  • A. Rötig
  • C. Jakobs
Short Communication

Keywords

Public Health Internal Medicine Adrenal Insufficiency Tricarboxylic Acid Corneal Opacity 

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References

  1. Baerlocher KE, Feldges A, Weissert M, Simonsz HJ, Rötig A (1992) Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.J Inher Metab Dis 15: 327–330.Google Scholar
  2. Iafolla AK, Gale DS, Roe CR (1990) Citrate therapy in argininosuccinate lyase deficiency.J Pediatr 117: 102–105.Google Scholar
  3. Jakobs C, Danse P, Veerman AJP (1991) Organic aciduria in Pearson syndrome.Eur J Pediatr 150: 684.Google Scholar
  4. Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS (1992) Significance of bound glutarate in the diagnosis of glutaric aciduria type I.J. Inher Metab Dis 15: 367–370.Google Scholar
  5. Rötig A, Cormier V, Blanche S et al (1990) Pearson's marrow-pancreas syndrome: A multisystem mitochondrial disorder in infancy.J Clin Invest 86: 1601–1608.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1993

Authors and Affiliations

  • A. Ribes
    • 1
  • E. Riudor
    • 2
  • R. Valcárel
    • 3
  • A. Salvá
    • 2
  • F. Castelló
    • 2
  • S. Murillo
    • 2
  • C. Dominguez
    • 2
  • A. Rötig
    • 4
  • C. Jakobs
    • 5
  1. 1.Institut de Bioquímica Clínica, Diputació de BarcelonaCerdanyola del Vallés, Barcelona
  2. 2.Hospital Materno-Infantil, Ciutat Sanitaria Vall d'HebronBarcelona
  3. 3.Hospital Materno-Infantil Juan CanalejoA. CoruñaSpain
  4. 4.Hopital des Enfants MaladesParisFrance
  5. 5.Department of PaediatricsFree University HospitalAmsterdamThe Netherlands

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