Galactokinase deficiency

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Galactokinase deficiency
Dulcitol.png
Galactitol
ICD-10 E74.2
ICD-9 271.1
OMIM 230200
DiseasesDB 29829
eMedicine ped/815 

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Keywords: Galactosemia type 2, GALK deficiency

Overview

Galactokinase deficiency is an autosomal recessive metabolic disease marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.[1]

Causes

Galactokinase deficiency is an autosomal recessive metabolic disease caused by mutations in the GALK1 gene, located on chromosome 17q24.

History and Symptoms

Unlike classic galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of galactitol, a product of an alternative route of galactose utilization. Other known symptoms resulting from the cataract related visual deficit are 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]

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. 

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