Skip to main content
SpringerLink
Log in

Long-term outcome in 134 patients with galactosaemia

  • Metabolic Diseases
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemic patients (78 homozygotes, 5 compound heterozygotes) by clinical, psychometric and laboratory testing; 31 patients were evaluated by medical history, the remaining 20 patients had died due to sequelae of the underlying disease. In 48 out of 78 classical galactosaemia patients galactose-free therapy had been started before the 15th day, in 19 between days 15 and 56 and in 11 patients after the 56th day. Physical findings revealed that puberty was delayed in 1 out of 18 males and 6 out of 11 females. Neurological abnormalities included ataxia (n=6), intention tremor (n=11) and microcephaly (n=10). Speech abnormalities were found in 43 out of 66 patients over 3 years of age and disturbance of visual perception and/or arithmetic deficits in 29. Intelligence declined with age, i.e., a DQ or IQ less than 85 was found in 4 out of 34 patients less than 6 years of age (12%), in 10 out of 18 between 7 and 12 years (56%) and in 20 out of 24 older than 12 years (83%). Metabolite patterns (RBC galactose-1-phosphate and UDP-galactose, plasma and urinary galactitol) did not correlate with DQ or IQ. Dietary compliance was good in almost all patients. Compound heterozygotes (n=5) had normal mental and growth development and all laboratory parameters were in the normal range. The cause of the unsatisfactory outcome of well-treated galactosaemic patients with disturbances in long-term development remains unclear. This could be due to a chronic intoxication of galactose metabolites or a deficiency of UDP-galactose or galactose-containing glycoproteins or glycolipids.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

G-G:

classical galactosaemia

D2-G:

compound heterozygosity

References

  1. Anonymous (1982) Clouds over galactosemia. Lancet II: 1379–1380

  2. Böhles H, Wenzel D, Shin YS (1986) Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins. Eur J Pediatr 145: 413–417

    PubMed  Google Scholar 

  3. Crome L (1962) A case of galactosaemia with the pathological and neuropathological findings. Arch Dis Child 415–421

  4. Donnell GN, Collado M, Koch R (1961) Growth and development of children with galactosemia. J Pediatr 58 (6): 836–844

    PubMed  Google Scholar 

  5. Fishler K, Koch R, Donnell GN, Wenz E (1980) Developmental aspects of galactosemia from infancy to childhood. Clin Pediatr 19 (1): 38–44

    Google Scholar 

  6. Fraser IS, Russell P, Greco S, Robertson DM (1986) Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia. Clin Reprod Fertil 4: 133–138

    PubMed  Google Scholar 

  7. Gitzelmann R, Steinmann B (1984) Galactosemia: How does long-term treatment change the outcome? Enzyme 32: 37–46

    PubMed  Google Scholar 

  8. Haberland C, Perou M, Brunngraber EG (1971) The neuropathology of galactosemia. A histopathological and biochemical study. J Neuropath Exp Neurol 30: 431–447

    PubMed  Google Scholar 

  9. Holton JB (1990) Galactose disorders: an overview. J Inherited Metab Dis 13: 476–486

    PubMed  Google Scholar 

  10. Jakobs C, Warner TG, Sweetman L, Nyhan WL (1984) Stable isotope dilution analysis of galactiol, in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia. Pediatr Res 18: 714–718

    PubMed  Google Scholar 

  11. Jan JE, Wilson RA (1973) Unusual late neurological sequelae in galactosaemia. Dev Med Child Neurol 15: 72–74

    PubMed  Google Scholar 

  12. Jansen G, Muskiet FAJ, Schierbeek H, Berger R, Slik W van den (1986) Capillary gas chromatography profiling of urinary plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 157: 277–294

    PubMed  Google Scholar 

  13. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R (1981) Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 304: 994–998

    PubMed  Google Scholar 

  14. Kaufman FR, Xu YK, Ng WG, Donnell GN (1988) Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediatr 112 (5): 754–756

    PubMed  Google Scholar 

  15. Kaufman F, Ng W, Xu YK, et al (1990) Treatment with oral uridine in classical galactosemia (G). Vth International Congress Inborn Errors of Metabolism (abstract). Asilamar, USA W5.7

    Google Scholar 

  16. Kirkman HN (1991) Uridine diphosphate glucose and uridine diphosphate galactose in galactosemia (letter). J Pediatr 119: 329

    PubMed  Google Scholar 

  17. Komrower GM (1982) Galactosaemia — thirty years on. The experience of a generation F.P. Hudson Memorial Lecture J Inherited Metab Dis 5 [Suppl 2]: 96–104

    Google Scholar 

  18. Komrower GM, Lee DH (1970) Long-term follow-up of galactosemia. Arch Dis Child 45: 367–373

    PubMed  Google Scholar 

  19. Lo WL, Packman S, Nash SN, et al (1984) Curious neurologic sequelae in galactosemia. Pediatrics 73(3): 309–312

    PubMed  Google Scholar 

  20. Ng WG, Xu YK, Kaufman F, Donnell GN (1991) Uridine diphosphate glucose and uridine diphosphate galactose in galactosemia (reply). J Pediatr 119: 329–331

    PubMed  Google Scholar 

  21. Ng WG, Xu YK, Kaufman FR, Donnell GN (1989) Deficit of uridine diphosphate galactose in galactosemia. J Inherited Metab Dis 12: 257–266

    Google Scholar 

  22. Palmieri MJ, Berry GT, Player DA, Rogers S, Segal S (1991) The concentration of red blood cell UDPglucose and UDPgalactose determined by high-performance liquid chromatography. Anal Biochem 194: 388–393

    PubMed  Google Scholar 

  23. Petry K, Greinix HT, Nudelman E, et al (1991) Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem Med Metab Biol 46: 93–104

    PubMed  Google Scholar 

  24. Prader A, Largo RH, Molinari L, Issler C (1988) Physical growth of Swiss children from birth to 20 years of age. Helv Paediatr Acta 43 [Suppl 52]: 1

    Google Scholar 

  25. Shin YS (1991) Galactose metabolism and disorders of galactose metabolism. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual). Wiley-Liss Inc., New York, pp 267–283.

    Google Scholar 

  26. Shin-Buehring YS, Beier T, Tan A, Osang M, Schaub J (1977) The activity of galactose-1-phosphate uridyltransferase and galactokinase in human fetal organs. Pediatr Res 11: 1003–1009

    Google Scholar 

  27. Shin-Bühring YS, Osang M, Ziegler R, Schaub J (1977) A simple method for galactose-1-phosphate uridyltransferase assay and the separation of its isoenzymes by DEAE-cellulose column chromatography. Clin Chim Acta 74: 1–5

    PubMed  Google Scholar 

  28. Tanner JM, Whitehouse RH (1976) Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child 51: 170–179

    PubMed  Google Scholar 

  29. Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherited Metab Dis 13: 802–818

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of paediatric Nephrology and metabolic Disorders, Children's Hospital, Medical School Hannover, Konstanty-Gutschow-Strasse 8, W-3000, Hannover 61, Federal Republic of Germany

    S. Schweitzer & J. Brodehl

  2. Drevon Haunersches Kinderspital, University of Munich, Germany

    Y. Shin & C. Jakobs

  3. Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands

    S. Schweitzer, Y. Shin, C. Jakobs & J. Brodehl

Authors
  1. S. Schweitzer
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Y. Shin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. C. Jakobs
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. Brodehl
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

This study was supported by a grant from the “Stifterverband für die Deutsche Wissenschaft” (Huebner-stiftung), grant TS 114/18/89 and by the “Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen”

Rights and permissions

Reprints and permissions

About this article

Cite this article

Schweitzer, S., Shin, Y., Jakobs, C. et al. Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152, 36–43 (1993). https://doi.org/10.1007/BF02072514

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02072514

Key words

Search

Navigation