Inborn Errors of Thiamine Metabolism

  • J.-M. Saudubray

Abstract

The triad of thiamine-responsive megaloblastic anemia, diabetes mellitus, and sensorineural deafness so far has been described in approximately 20 patients from 12 unrelated families [1–7; N. Buist, R. Rappaport, personal communications]. Its basic defect is unclear.

Keywords

Anemia Disulfide Neutropenia Thrombocytopenia Triad 

References

  1. 1.
    Rogers LE, Porter FS, Sidbury JD (1969) Thiamine-responsive megaloblastic anemia. J Pediatr 74: 494–504PubMedCrossRefGoogle Scholar
  2. 2.
    Viana MD, Carvalho RI (1978) Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: a new syndrome? J Pediatr 83: 235–238Google Scholar
  3. 3.
    Abboud MR, Alexander D, Najjar SS (1985) Diabetes mellitus, thiamine-dependent megaloblastic anemia and sensorineural deafness associated with deficient a-ketoglutarate dehydrogenase activity. J Pediatr 107: 537–541PubMedCrossRefGoogle Scholar
  4. 4.
    Mandel H, Berant M, Hazani A, Naveh Y (1984) Thiamine-dependent beriberi in the “thiamine-responsive anemia syndrome”. N Engl J Med 311: 836–838PubMedCrossRefGoogle Scholar
  5. 5.
    Rosskamp R (1985) Thiamine-dependent anemia and thrombocytopenia, insulin-dependent diabetes mellitus and sensorineural deafness: case report and review. Klin Pädiatr 197: 315–317PubMedCrossRefGoogle Scholar
  6. 6.
    Poggi V, Rindi G, Patrini C, De Vizio B, Longo G, Andria G (1989) Studies on thiamine-responsive megaloblastic anaemia. Eur J Pediatr 148: 307–311PubMedCrossRefGoogle Scholar
  7. 7.
    Saudubray JM, Barbier ML (1987) Thiamine. In: Munnich A, Ogier H, Saudubray JM (eds) Les vitamines. Masson, Paris, pp 107–142Google Scholar
  8. 8.
    Porgna-Pignatti C, Marradi P, Pinelli L, Monetti N, Patrini C (1989) Thiamine-responsive anemia in DIDMOAD syndrome. J Pediatr 114: 405–410CrossRefGoogle Scholar
  9. 9.
    Anonymous (1986) DIDMOAD (Wolfram) syndrome (Editorial). Lancet 1: 1075–1078Google Scholar
  10. 10.
    Baker H, Frank 0 (1976) Absorption, utilization and clinical effectiveness of allithiamines compared to water-soluble thiamines. J Nutr Sci Vitaminol 22 [suppl]: 63–68Google Scholar
  11. 11.
    Longdale D, Nodar RH, Orlowski JP (1982) Brainstem disfunction in infants responsive to thiamine disulfide: preliminary studies in four patients. Clin Electroencephalogr 13: 82–88Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1990

Authors and Affiliations

  • J.-M. Saudubray

There are no affiliations available

Personalised recommendations