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Galactokinase deficiency



Galactokinase deficiency
Classification & external resources
ICD-10 E74.2
ICD-9 271.1
OMIM 230200
DiseasesDB 29829
eMedicine ped/815 

Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.[1]

Additional recommended knowledge

Contents

Causes

This is a congenital disease, and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is cataracts, which can present as a failure to develop a social smile, and failure to visually track moving objects.

Treatment

Galactokinase deficiency is treated with a diet low in galactose.[2]

See also

References

  1. ^ Holton JB (1990). "Galactose disorders: an overview". J. Inherit. Metab. Dis. 13 (4): 476-86. PMID 2122114.
  2. ^ Gitzelmann R, Steinmann B (1984). "Galactosemia: how does long-term treatment change the outcome?". Enzyme 32 (1): 37-46. PMID 6479120.


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Galactokinase_deficiency". A list of authors is available in Wikipedia.
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