|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Galactosemia causes On the Web |
|
American Roentgen Ray Society Images of Galactosemia causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Galactosemia is an autosomal recessive disorder which is caused by dysfunction of the enzymes] involved in the Leloir pathway of galactose metabolism.
Galactosemia is inherited in an autosomal recessive manner when one faulty gene is acquired from each of the carrier parents. The mutations responsible are as follows [1]:
Impaired functioning of the GALT gene, leading to absence of the galactose-1-phosphate uridyl transferase enzyme [2].
GALT gene dysfunction causes reduction of enzyme activity to 50 % [2]
Abnormality in the GALK1 gene [3]
Variation in the activity of the GALE gene [4]
Biallelic mutations in the GALM gene [5]
|pmid= value (help).