Biology on Galactosemia - Research Paper Example

The malfunctioning enzyme There are three forms of galactosemia; these include galactose-1, uridyl 1, and classic galactosemia, which is the most severe and common form of galactosemia. The human body breaks down lactose into galactose and glucose and these sugars are used for energy. People with galactosemia have the malfunctioning of the enzyme known as GALT, which helps in breaking down galactose. Defects in the metabolism of galactose lead to the buildup of toxic chemicals in the body cells.

Classic galactosemia, which is the most common form, is transmitted through an autosomal recessive patter. A child inherits one defective gene from each parent in order for them to contract this disorder. When a child inherits one mutated and one normal gene, he or she becomes a carrier (Thomas & David, 2011). A carrier has less than normal amount of GALT enzyme that is required in normal circumstances. However, they can be able to break down galactose, thus avoiding symptoms associated with the disease.

Although this is the case, carriers have the capacity to pass on to their children the mutated gene. People suffering from galactosemia may entirely lack the GALT enzyme. The prevalence of galactosemia is 1 in every 20, 000 births. There is a likelihood of one out of four that a child will be born with the disease, especially in each pregnancy in a family where other members have suffered from the disease in the past. When an infant suffering from galactosemia takes milk, there is building up of galactose substances in the system of the infant.

These substances may cause damage to the brain, eyes, kidneys, and liver. This means that people suffering from galactosemia cannot tolerate animal or human milk (Thomas & David, 2011). Symptoms of galactosemia The defects in the metabolism of galactose can lead to various symptoms, which include kidney failure, cataracts, mental retardation, enlarged liver, and poor growth. In most cases, the disease tends to occur in the first few days resulting from milk or breast formula ingestion. Patients with this disease may experience symptoms such as vomiting, jaundice, lack of weight gain, irritability, as well as diarrhea.

In infants, the symptoms of the disease result from infection of the blood with the bacteria known as E. coli. Children may portray symptoms related to poor feeding habits, where they may refuse to take milk that contains a formula (Bosch et al, 2004). Another symptom of galactosemia includes convulsions, which entails the rapid shaking of the body uncontrollably. Galactosemia may also be accompanied by symptoms such as irritability in the patient, and especially children. They may become whiny, fussy, and fretful while suffering from the disease despite how much the parent tries to soothe them.

Other symptoms of the disease include lethargy, tiredness, and drowsiness, as well as a feeling of lack of motivation and energy by the patient (Bosch et al, 2004). Diagnosis The diagnosis of galactosemia is done through blood tests, where the detection of the can be done by measuring the enzyme level in white blood cells, red blood cells, or in the liver. Patients affected by this disease lack enzyme activity; however, parents who may be carriers tend to have intermediate enzyme activity, which can be half the normal enzyme activity level.

During the diagnosis of this disease, it is advisable not