galactosemia

A person with galactosemia doesn't have one of these enzymes.

A galactosemia test is usually done to determine whether a newborn has the disease.

Without treatment, mortality in infants with galactosemia is about 75%.

Galactosemia is indicated by a significantly reduced level of activity.

Further tests should be done to confirm the diagnosis of galactosemia.

Diabetes, like galactosemia, can cause blood sugar to increase to eye-damaging levels.

Galactosemia is also very common within the Irish Traveller population.

None of these symptoms are specific to galactosemia, often leading to diagnostic delays.

These screening tests are set to be very sensitive so as not to miss many infants with galactosemia.

The damage caused by galactosemia can begin within weeks after the baby has started drinking breast milk or formula.

The pathophysiology of galactosemia has not been clearly defined.

Learn about galactosemia causes, symptoms, tests, treatment and prevention.

This is a screening test for galactosemia.

This is largely due to a lack of functional animal models of classic galactosemia.

In fact a third test, called the "Florida test", is also normally performed on all galactosemia positives.

The treatment for galactosemic cataract is no different from general galactosemia treatment.

Galactosemia is a childhood disease of hereditary nature.

Classic galactosemia is the most severe form.

Galactosemia is a rare disease that is passed from parents to children (inherited genetic disorder).

The only treatment for classic galactosemia is eliminating lactose and galactose from the diet.

One variant causes a milder form of the disorder known as Duarte galactosemia.

Galactosemia is caused by mutations in the gene that makes the enzyme galactose-1-phosphate uridylyltransferase.

Severe form is similar to galactosemia.

Galactosemia is one of the most mysterious of the heavily-researched metabolic diseases.

Enzyme assays are used to screen for galactosemia and biotinidase deficiency.