People with galactosemia
, either classic galactosemia
or epimerase deficiency galactosemia
, have genetic mutations that decrease their levels of the key enzymes (GALT and GALE) responsible for the metabolism of a common form of dietary sugar.
The Montana State Lab receives these blood spot cards and takes enough from the card to test for phenylketonuria, galactosemia
, hemoglobinopathies, and congenital hypothyroidism.
means too much galactose builds up in the blood.
More than 40 programs screen for sickle cell disease and 48 screen for galactosemia
Before the days of routine screening, a rare affliction, galactosemia
, would only be discovered after a mother had lost one or more children to the illness for no other reason than she didn't know her infants could not digest galactose--a natural sugar found in milk and other foods.
While HIV testing is voluntarily, Runner says the state requires mandatory testing of infants for far less common diseases, such as phenylketonuria and galactosemia
- both genetic disorders that can lead to mental retardation, and which together were detected in 428 infants from 1980 through 1996.
Routine newborn screening includes hypothyroidism, phenylketonuria, and galactosemia
(Williams and Miller, 1991).
However, notes Cramer, the new analysis does offer "demographic confirmation of what we have observed both experimentally, when you feed a mouse high galactose, and clinically, in women with galactosemia
[an inability to metabolize galactose].
It is estimated that of every 100,000 babies born worldwide, 300 test positive for hearing loss, and 150 may test positive for a metabolic or genetic disorder like Sickle Cell Disease, Congenital Hypothyroidism, Galactosemia
, PKU, MCADD or Congenital Adrenal Hyperplasia.
A deficiency of any one of these enzymes may result in a rare genetic disease, galactosemia
For example, all fifty states and the District of Columbia test for PKU, sickle cell disease, congenital hypothyroidism, and galactosemia
, but they vary in the selection of additional conditions.
Monitoring neonatal hypoglycemia with the Accuchek advantage II glucose meter: the cautionary tale of galactosemia