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Article

Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.

Clinica chimica acta; international journal of clinical chemistry - 9 Oct 2010

Ko Dae-Hyun, Chang Ho Eun, Song Sang Hoon, Park Kyoung Un, Kim Jin Q, Kim Min-Chang, Song Young-Han, Hong Yong Hee, Lee Dong Hwan, Song Junghan

Abstract excerpt

BACKGROUND: Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity. METHODS: To investigate the molecular defects of the GALT gene, PCR-direct sequencing was performed with genomic DNA from 18 Korean patients with reduced GALT activity. RESULTS: Of the 18 patients tested, 13 (72.2%) had...

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Identifiers

PMID: 20547145
DOI: 10.1016/j.cca.2010.06.008

Genes

GALT

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