• Proceedings of the PSK Conference
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• 2003.10b
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• pp.214.4-215
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• 2003

In galactose metabolic pathway : there are three inborn metabolic disorders galactokinase deficiency (galactosemia type II), galactose-1-phosphate uridyl transferase(GALT) daficiency (galactosemia type I ), uridine diphosphate galactose-4-epimerase deficiency (galactosemia typeIII). Among these disorders GALT deficiency is the most severe and common. Infants with GALT deficiency fail to metabolize galactose-1-phosphate. As a consequence, galactose-1-phosphate and galactose are accumulated in blood in which GALS enzyme plays the role of a pathognomonic marker. (omitted)

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.14-23
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• 2020

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.