-
Galactosemia (British galactosaemia, from Gr**** γαλακτόζη + αίμα,
meaning galactose + blood, ac****ulation of
galactose in blood) is a rare
genetic metabolic...
- Galactose-1-phosphate
uridylyltransferase deficiency (classic
galactosemia) is the most
common type of
galactosemia, an
inborn error of
galactose metabolism, caused...
-
There are two
forms of
Galactosemia:
classic and Duarte.
Duarte galactosemia is
generally less
severe than
classic galactosemia and is
caused by a deficiency...
- from
classic galactosemia in that
patients with
Duarte galactosemia have
partial GALT
deficiency whereas patients with
classic galactosemia have complete...
-
classic galactosemia in
humans and can be
fatal in the
newborn period if
lactose is not
removed from the diet. The
pathophysiology of
galactosemia has not...
- as GALE deficiency,
Galactosemia III and UDP-galactose-4-epimerase deficiency, is a rare,
autosomal recessive form of
galactosemia ****ociated with a deficiency...
-
galactosemic cataract is
cataract which is ****ociated with the
consequences of
galactosemia. The
presence of
presenile cataract,
noticeable in
galactosemic infants...
-
improper metabolism of galactose-1-phosphate is a
characteristic of
galactosemia. The
Leloir pathway is
responsible for such
metabolism of
galactose and...
-
damage the ovaries,
leading to POI.
Women who have
inherited classic galactosemia (galactose intolerance) may
develop primary ovarian insufficiency. The...
-
progress in understanding,
diagnosing and
treating the
congenital disease galactosemia.
Leloir is
buried in La
Recoleta Cemetery,
Buenos Aires. Leloir's parents...
