Advertisement

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

Inborn Error Megaloblastic Anemia Sensorineural Deafness Thiamine Metabolism Anemia Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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