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KMID : 0918520200200010014
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Journal of the Korean Society of Inherited Metabolic Disease
2020 Volume.20 No. 1 p.14 ~ p.23
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Galactosemia: A Korean Patient and Literature Review
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Yu Seung-Woo
Gang Mi-Hyeon
Lee Yong-Wook
Chang Mea-Young
Levy Harvey L.
Kim Sook-Za
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Abstract
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Classic galactosemia is a rare genetic disorder in Korea and the mutation spectrum in Koreans differs from that of Caucasians and non-Caucasian Americans. Classic galactosemia is considered a metabolic complication that is preventable by early detection via newborn screening and dietary treatment. In this most recent case of Korean galactosemia, the patient showed early initiation of clinical symptoms, which manifested during the neonatal period. The patient achieved normalization via diet management to correct metabolic complications. In addition, we assessed the characteristics of mutations in 25 Korean galactosemia cases via a literature review of studies associated with classic galactosemia.
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KEYWORD
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Galactosemia, Galactose-1-Phosphate Uridyl-Transferase deficiency, GALT deficiency, Galactitol, Cataracts
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