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Home About Galactosaemia Milestones

 
1908  
The first description of galactosaemia was given by Thalhammer.

1949 - 53

  Clarification of the pathways of metabolism.
1956  
Proof of the accumulation of galactose-1-phosphate.
Proof of the GALT-deficiency.
1957  
First screening test for galactosaemia.
1962  

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Prof. Dr. Med. Brandt first time described Galactosaemia in Denmark.

  1965  


Beutler found the Duarte variant.

  1966  


Beutler found a simple spot screening test for galactosaemia.


The Austrian newborn screening for galactosaemia started in 7 states of Austria.

  1969  
First assumption of endogenous production of galactose.
  1972  


The Irish newborn screening for galactosaemia started.

  1977 - 84  
Localisation of the chromosomes.
  1988  


The British support group for people with galactosaemia, the Galactosaemia Support Group, was founded.


The German support group for people with galactosaemia, the Elterninitiative Galaktosämie, was founded.


The DNS-structure of the GALT was detected.

  1990  
Study: Long-term prognosis in galactosemia: results of a survey of 350 cases. Waggoner D, Buist N, Donnell G. J Inherit Metab Dis 1990;13 (6):802-18
1991  


The Austrian support group for people with galactosaemia, the ÖïGïAïSïT, was founded.


Study: Fruits and Vegetables are a Source of Galactose: Implications in Planning the Diets of Patients with Galactosaemia. Gross K, Acosta P


Study: Verbal Dyspraxia in Treated Galactosemia. Nelson D, Waggoner D, Donell G, Tuerck J, Buist N. Pediatrics Vol. 88 No. 2; J. Inher. Metab. Dis. 14 253-258


The first galactosaemia mutation was detected.

  1992  

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The Danish association, the Galaktosæmiforeningen i Danmark, was founded.


Clarification of the GALT-genes.

  1993  


Study: Long-term outcome in 134 patients with galactosaemia. Schweitzer S, Shin Y, Jakobs C and Brodehl J. Eur J Pediatr 1993 Jan;152(1):36-43


After 25 years (!!) was in Fulda a meeting with speeches only to the topic of Galactosaemia. The national support groups for Galactosaemia of Austria, Germany, the Netherlands, the Switzerland and the United Kingdom had been invited.


The British support group became a registered charity.


Study: Effect of Oral Uridine in Classical Galactosemia. Kaufman F


The galactosaemia register was started.

  1995  


The Dutch support group for people with galactosaemia, the Galactosemie Vereniging Nederland, was founded.


Study: Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Berry G, Nissim I, Lin Z, Mazur A, Gibson J, Segal S

 

1996

 
The first female galactosaemic member of the British support group has a baby of her own.
  1997  


The European Galactosaemia Society was founded in Vienna/Austria.

1999  


Study: Spontaneous pregnancy in a patient with classical galactosaemia. de-Jongh S., Vreken P., Ijst L., Wanders R., Jakobs C., Bakker H.


Study: Classical galactosaemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Tyfield L., Reichardt J., Fridovich-Keil J., Croke D., Elsas L., Strobl W., Kozak L., Coskun T., Novelli G., Okano Y., Zekanowski C., Shin Y., Boleda M.


The Spanish support group for people with galactosaemia, the Asociación Espanola para la Galactosemia, was founded.

  2000  


The Norvegian support group for people with galactosaemia, the Foreningen for Galaktosemi, was founded.


The French support group for people with galactosaemia, the Association des Familles Galactosemiques de France, was founded.

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The galactosaemia diet in Denmark was renewed - a diet free of lactose, milk and milkproducts. There is no prohibited food in the diet beyond the lactose and milkproducts, but the person with Galactosaemia is requested to eat a varied food.

  2001  


UK introduced certain cheese into the diet

     

More information about the local group
Statement fo the Danish Ministry of welfare, the Danish Galactosaemia Society and the association "Rare Diseases in Denmark" concerning the treatment of persons with galactosaemia

  2002  

More information about the local group
The screening program for galactosaemia started in February!!!!!

  2003  

More information about the local group
Report of the conditions of galactosaemia in Denmark, based on interviews with patients and their relatives, a very useful help for the information of teachers, social workers, doctors, etc.


Start of the Kompetenzzentrum Galaktosämie in Düsseldorf


UK introduced certain cheese into the diet!!!

  2004  
First analaysis of the endogenous production of galactose.
       
 
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Last updated: 02.06.2006