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Classic Galactosemia And Its Role In Primary Ovarian Insufficiency

1242 words - 5 pages

Galactose has several important roles in the human body: provides energy in the form of ATP, and aides in the formation of compounds crucial to the glycosylation of certain proteins, such as follicle stimulating hormone (FSH). The Leloir pathway utilizes three enzymes to metabolize galactose: galactokinase, galactose-1-phosphate uridylyltransferase (GALT), and UDP-galactose 4-epimerase. In a genetic mutation known as classic galactosemia, there is a total lack of GALT enzyme activity. This inevitably leads to galactose and galactose metabolite build up in tissues, cascading into many resulting problems due to cell toxicity. The ovaries are especially sensitive to the toxic effects of ...view middle of the document...

In an effort to lower levels of galactose in the system, the simple sugar may be metabolized by the enzyme aldose reductase to form galacticol, a compound toxic in tissues when it begins to accumulate.
Several tests are done to detect galactosemia. First, a heel prick is done two days after birth. After an initial positive heel prick, official confirmation is done by testing for GALT enzyme activity on isolated red blood cells. An infant with classic galactosemia will have elevated blood galactose levels, found by the heel prick, and no GALT enzyme activity. Other findings from the blood sample will include increase galactose-1-phosphate levels and elevated galacticol levels. In galactosemic infants that have not been treated, symptoms of the disorder will manifest as multi-organ damage in the kidneys, liver, ovaries, brain, and the lens of the eye. If the infant is left untreated E. coli sepsis may occur and cause eventual death. After treatment, two common occurrences resulting from prenatal galactose damage are learning disabilities, and POI in females. Signs of POI will not arise until around the time puberty should occur, even though POI is most likely caused during prenatal development. During adolescence there will be elevated levels of FSH, considered an indirect measure because it may be a response to the lack of ovarian activity and follicle maturation. Finally, another indicator will be primary amenorrhea, which is when puberty does not occur. Estrogen levels are very low in galactosemic females because follicular maturation is not occurring and no corpus luteum is produced.
There are many possible causes of POI, which include: an initial reduced number of follicles, the follicles may not be maturing, follicular apoptosis, or a combination of these mechanisms. I will focus on apoptosis, or programmed cell death. Galactose levels positively correlate with the presence of caspase 3 and reactive oxygen species (ROS). Caspase 3 and ROS both play a role in the initiation and execution of apoptosis, indicating that as levels of galactose rise, the possibility of apoptosis occurring may also rise. Not only does FSH stimulate follicular growth, it simultaneously acts against apoptosis by suppressing ROS. However, in the case of galactosemia FSH may not be glycosylated correctly due to a lack of the necessary compounds, causing the inability of FSH to stimulate maturation of follicles. Since FSH may not be functioning correctly as is, it may also be unable to suppress the actions of ROS, therefore increasing the chances of apoptosis of follicles in the ovaries. Granulosa cells exposed to galactose may also undergo apoptosis due to an increased expression of p53, a protein that induces cell death. Because granulosa cells are crucial to the survival of the oocyte, death of granulosum will also lead to overall death of the follicle itself.
Galacticol may also have...

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