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 …

Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency
is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a …

Classic galactosemia (CG) is a potentially lethal inborn error of galactose metabolism that
results from deleterious mutations in the human galactose-1 phosphate uridylyltransferase …

Despite many decades of research involving both human subjects and model systems, the
underlying pathophysiology of long-term complications in classic galactosemia (CG) …

Background Neonatal screening in Germany currently comprises 19 congenital diseases, 13
of which are metabolic diseases. Approximately one in 1300 newborns suffers from one of …

Objectives Rare diseases are characterised by low incidence, often with little evidence for
effective treatments. Isolated patients and specialist centres for rare diseases are …

Precision medicine is an emerging approach to managing disease by taking into
consideration an individual's genetic and environmental profile toward two avenues to …

Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of
metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused …

Longitudinal studies are mandatory to study aging, however, they have certain drawbacks,
for example, they require strict maintenance that is expensive given the breeding time …

BACKGROUND Hypergonadotropic hypogonadism is a burdensome complication of classic
galactosemia (CG), an inborn error of galactose metabolism that invariably affects female …