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Article

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.

BMC medical genetics - 15 Aug 2014

Choi Rihwa, Jo Kyoung Il, Ko Dae-Hyun, Lee Dong Hwan, Song Junghan, Jin Dong-Kyu, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Lee Yong-Wha, Park Hyung-Doo

Abstract excerpt

BACKGROUND: Classic galactosemia (OMIM #230400) is an autosomal recessive metabolic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) protein due to mutations in the GALT gene. The aim of this study was to provide a comprehensive and updated mutation spectrum of GALT in a Korean population. METHODS: Thirteen unrelated patients screened positive for galactosemia in a...

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Identifiers

PMID: 25124065
DOI: 10.1186/s12881-014-0094-5
PMCID: PMC4236512

Genes

GALT

Variants

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