Classic Galactosemia/Duarte Galactosemia/Galaktokinase
Deficiency What is Classic Galactosemia? Classic Galactosemia is
a rare genetic metabolic disorder. The child with classic
galactosemia inherits a gene for galactosemia from both parents,
who are carriers. Patients who inherit the classic galactosemia
gene from each parent are sometimes described as having the
genetic makeup "G/G". Normally when a person consumes a product
that contains lactose (e.g., dairy products such as milk,
cheese, butter), the body breaks the lactose down into galactose
and glucose. Glucose is the sugar used by the body for energy.
Galactosemia means too much galactose in the blood caused by the
individual "missing" the enzyme (known as GALT) to convert
galactose into glucose. This accumulation of galactose is a
poison to the body and can cause serious complications such as
the following and if untreated, as high as 75% of infants will
die: - an enlarged liver - kidney failure - brain damage
Diagnosis is made usually within the fir