Received FDA Orphan Drug Designation for AT-007 in
Galactosemia. In May 2019, we received orphan drug designation for AT-007 in
Galactosemia.
In conclusion, AR was overactivated by
galactosemia and led to severe osmotic expansion in lenticular cells; subsequently, P-gp and Clcn3 were both upregulated due to lenticular cell swelling and tried to maintain the osmotic balance within galactosemic lenses.
Berry, "
Galactosemia: when is it a newborn screening emergency?" Molecular Genetics and Metabolism, vol.
Material and Methods: This is a retrospective study that includes the moleculer and genetic charcteristics of 14 patient who were diagnosed as having
galactosemia between January 2009 and January 2011.
In Brazil, with a population of highly mixed ethnicity, a study conducted in a sample of 60,000 neonates in the State of Sao Paulo found an incidence of
galactosemia of 1:19,984 newborns (9).
(23) However, we thought that galactose was practically not an ideal candidate for restoration of the mutant enzyme in human tissues, as it is rapidly metabolized in cells and tissues, and the continuously high galactose concentration in somatic cells could cause direct galactose intoxication such as
galactosemia, and result in pathological osmolarity in the extracellular fluid higher than that in the human blood under the physiological condition, causing significant dehydration, shrinkage and dysfunction of somatic cells.
A deficiency of any one of these enzymes may result in a rare genetic disease,
galactosemia (1,2).
Gaucher Disease, Maple Syrup Urine Disease, Pompe Disease,
Galactosemia, Phenylketonuria, Methylmalonic Acidemia, Urea Cycle Defects, Hurler Syndrome, Hunter Syndrome, Prader-Willi Syndrome, Edward Syndrome and Patau Syndrome are just some of the rare diseases now identified in the Philippines.
Some of them are Fructose Intolerance,
Galactosemia, and Phenylketonuria (PKU), etc.