galactosemia

1. SHARMA RAVI
[TNMU]

2.  some babies are born with galactosemia. It’s a
rare metabolic condition that prevents them
from processing galactose (one of the sugars
in breast milk and formula) and turning it into
energy.

3.  Classic (type I)
• Deficiency of galactose 1-phosphate
uridyltransferase • Autosomal recessive
disorder • Galactose-1-phosphate accumulates
in cells • Leads to accumulation of galactitol in
cells .

4.  Galactokinase deficiency (type II)
• Milder form of galactosemia • Galactose not
taken up by cells • Accumulates in blood and
urine • Main problem: cataracts as
child/young adult • May present as vision
problems

5.  Galactose epimerase deficiency (type III)
Galactose epimerase deficiency, also known as
GALE deficiency, Galactosemia III and UDP-
galactose-4-epimerase deficiency, is a rare,
autosomal recessive form of
galactosemia associated with a deficiency of
the enzyme galactose epimerase.

6.  Convulsions.
 Irritability.
 Lethargy.
 Poor feeding -- baby refuses to eat formula
containing milk.
 Poor weight gain.
 Yellow skin and whites of the eyes (jaundice)
 Vomiting.

7.  Classic galactosemia and clinical variant
galactosemia are diagnosed when galactose-1-
phosphate is elevated in red blood cells and GALT
enzyme activity is reduced. Molecular genetic
testing is also available to identify mutations in
the GALT gene.
 Nearly 100% of infants with galactosemia can be
diagnosed in newborn screening programs using a
blood sample from the heel stick. Infants with
clinical variant galactosemia can be missed at
newborn screening if GALT enzyme activity is not
measured.

8.  Infants and children with galactosemia should
have a lactose-restricted (dairy-free) diet that
contains lactose-free milk substitutes and other
foods such as soy bean products.

9.  Liver accumulation galactose/galactitol
• Liver failure
• Jaundice
• Hepatomegaly
• Failure to thrive