george washington
...ctosemia We are very honored to stand here to deliver our presentation. The disease we concentrate on is called galactosemia. Galactosemia is a hereditary defect of lacking of enzyme that is used to decompose the sugar (galactose) in the milk. It mostly happens to newly born infants (especially those whose parents are kinsmen by blood). The original cause of this disease is the transmittal of an autosomal recessive allele in gene (gg). The frequency of carrier is 1/25, while the incidence is 1/62,000(0.02/1000). There are actually no symptoms in first several days after the infant’s birth. Then, after a couple of days’ milk feeding, they become to vomit, become sluggish and fail to gain weight visibly. As a matter of fact, it is more severe invisibly---because the lactose in the milk will be decomposed into galactose and glucose, and there is no enzyme to decompose the galactose in the blood of patients, the galactose will turn into alcohol by itself, which will do harm to the liver (the liver enlargement). In addition, the product produced by galactose is deposited in the eye, causing cataracts. Mental retardation and hypoglycemia are all present, too. Though the patient looks no difference from others before being diagnosed, there is still a method to detect it. Collecting amniotic fluid from the mother-to-be is a practical way to detect galactosemia before the infant is born (prenatal teat). It strives more time for treatment. Conversely, if the infant were born, urine testing is the most common way to detect---too see whether galactose invariably is present. Generally, two kinds of treatments can be used to cure galactosemia. They both have advantages and disadvantages. The f...