GALT 유전자의 복합 이형 돌연변이에 의한 전형적 갈락토오스혈증 1례

Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case pre...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 5; no. 2; pp. 131 - 135
Main Authors 전종근(Chong Kun Cheon), 조민성(Min Sung Cho), 고정민(Jung Min Ko), 김구환(Gu-Hwan Kim), 유한욱(Han-Wook Yoo)
Format Journal Article
LanguageKorean
Published The Korean Society of Medical Genetics 30.12.2008
대한의학유전학회
Subjects
GALT gene
Classical galactosemia
GALT-deficient
Heterozygous mutation
Online AccessGet full text
ISSN1226-1769
2233-9108

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  • 서론 증례보고 고찰 국문초록 참고문헌