Mariana Ortiz Isaacs

October 14th, 2020

Block 8

Galactosemia
 Abstract

Galactosemia is an uncommon disease that affects one out of every 30,000

to 60,000 of those born in the United States alone. The disorder affects how the
body processes a simple sugar called galactose. Classic galactosemia happens
when an enzyme called galactose-1-phosphate uridyltransferase is not present or is
not functional. This is the enzyme that is responsible for converting ingested
galactose into glucose. Galactose is part of a large sugar called lactose that is found
in all dairy products, some baby formulas, some vegetables, and breast milk. When
someone with galactosemia ingests foods or liquids that have galactose, undigested
sugars build up in the blood.
Galactosemia is most commonly diagnosed through a blood test and a
variety of other tests that are done as part of the screening program given to
newborn babies. When the baby is given the blood test, it will detect high levels of
galactose and low levels of enzyme activity. Classic galactosemia (type 1) is the
most common and more severe for a person. Infants affected by Type 1 usually are
challenged with having difficulty feeding, experience a lack of energy, they have
problems gaining weight, more likely to contract cataracts, and suffer liver
damage. Type 2 and Type 3 galactosemia cause fewer medical problems but they
could also cause cataracts, kidney problems, cause a delay in growth, and lead to
liver disease. If common galactosemia is not treated quickly, complications can
appear after a few days of the birth of the infant and it could be life threatening.

Questions
1.Identify the enzyme involved and its function.
Classic galactosemia occurs when an enzyme called galactose-1-phosphate
uridyltransferase is missing or not functional. Galactose-1-phosphate
uridyltransferase is responsible for breaking down galactose into other molecules
that can be used by the body.
2.Examine how a person’s health is affected by Galactosemia.
Infants affected by galactosemia can develop long term complications such as liver
problems, cataracts, and kidney problems.
3.Find out how the Galactosemia is diagnosed.
Galactosemia is diagnosed by a series of tests done when the infant is born. This
test could be done as a blood or urine test. When the infant takes the blood test, it
will detect high levels of galactose and low levels of enzyme activity.
4. Describe the effects of not treating Galactosemia.
Not treating galactosemia can be very fatal to an infant. Some early effects of not
treating galactosemia are failure to grow, seizures, bleeding, cataracts, and poor
feeding.

Bibliography

Bandoim, Lana. “Everything You Should Know About Galactosemia.” Healthline July 21,2017:
1
Boston Children’s Hospital. “Galactosemia Symptoms & Causes,” Boston Children’s Hospital
2005-2020: 1
U.S. National Library of Medicine. “Galactosemia,” MedlinePlus August 1st 2015: 1