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KMID : 1189120080050020131
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대한의학유전학회지
2008 Volume.5 No. 2 p.131 ~ p.135
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A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene
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Cheon Chong-Kun
Cho Min-Sung
Ko Jung-Min
Kim Gu-Hwan
Yoo Han-Wook
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Abstract
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Classical galactosemia is a autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). The build up of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The presented case was a 11-days-old, female infant who has elevated galatose level on initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. She was transferred due to aggravation of clinical symptoms including bleeding, jaundice. She had delayed galactose free diet because of inappropriate diagnosis. We quickly provided lactose/galactose-restricted diet to her before final diagnosis and then clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene. We could find out GALT deficiency and compound heterozygous mutations of the GALT gene.
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KEYWORD
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Classical galactosemia, jaundice, GALT, mutation
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