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ABSTRACT:
SUBMITTER: Succoio M
PROVIDER: S-EPMC9313126 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Succoio Mariangela M Sacchettini Rosa R Rossi Alessandro A Parenti Giancarlo G Ruoppolo Margherita M
Biomolecules 20220711 7
Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy. Galactosemia is an autosomal recessive genetic disease that can be diagnosed at birth, even in the absence of symptoms, with newborn screening by assessing the level of galactose and the GALT enzyme activity, as GALT defe ...[more]