DEFINITION
Galactosemia is a condition in which the levels of galactose
in the blood is high.
CAUSE
Galactose is the sugar found in lactose (the sugar in milk).
Galactose are also found in some fruits and vegetables. Galactosemia occur due
to lack of one of the enzymes that are essential for the metabolism of
galactose, namely:
·
uridyl galactose-1-phosphate transferase (cause
of classic galactosemia, a form of the most common and most severe)
·
galactose kinase
·
galactose-6-phosphate epimerase
Consequently metabolites that are toxic to the liver and
kidneys accumulate. These metabolites also can damage the eye's lens and cause
cataracts.
SYMPTOMS
Newborns with galactosemia seemed normal at first, but
within a few days or weeks after an infant formula or breast milk containing
lactose, they will be loss of appetite, irritability, vomiting, jaundice
(yellow), diarrhea, difficult to gain weight and do not grow normally. The
child may also experience seizures. The function of white blood cells is
disturbed, so it could happen serious infections. The symptoms that arise can
be caused by severe blood infection by the bacterium E. coli.
Metabolites that accumulate cause disorders of the liver and
kidneys, as well as damage the eye's lens and cause cataracts. If treatment is
given too late, then the child will experience growth retardation, short stays,
and impaired intellectual, or even death.
DIAGNOSIS
Signs of galactosemia include:
·
the amino acid in the urine or blood plasma
·
enlargement of the liver
·
the presence of fluid in the abdomen (ascites)
·
Low blood sugar
Examination of the galactosemia done routinely for every
newborn in many countries. Tests done can be:
·
examination of enzyme activity in red blood
cells
·
ketones in the urine
·
blood cultures to see if there is a bacterial
infection
·
reducing substances in the urine, and blood
sugar normal or low when the baby is given breast milk or formula containing
lactose
·
prenatal examination by directly measuring the
levels of the enzyme galactose-1-phosphatase uridyl transferase
Couples who have siblings or children with galactosemia
should be checked first before planning a pregnancy to find out if they carry
the gene that causes the disease. If the two careers have offspring, then the
child has a probability of 1: 4 to be born with the disease.
TREATMENT
Patients with galactosemia should avoid foods containing
galactose, such as milk, other dairy products, some fruits and vegetables, and
seafood, such as seaweed. Galactosemia patients should limit their consumption
of galactose throughout his life.
PREVENTION
If galactosemia is detected at birth and treated adequately,
then there is no liver and kidney disorders. Children will also experience
normal mental development. However, despite getting adequate treatment,
children with galactosemia can have lower IQ compared with normal siblings, and
they often have problems in speaking. Girls are often impaired ovarian
function, and few of them are able to get pregnant as women are generally at a
later date. However, in boys with normal testicular function.
REFERENCE
- E, Chad H. Galactosemia. Medline Plus. 2011.
- Lee M Sanders. Disorders of Carbohydrate Metabolism. Merck
Manual. 2009.
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