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FEATURED BOOK ON FABRY DISEASE FROM BARNES & NOBLE.COM:
Fabry disease
Fabry disease is categorized as x-linked recessive. This means that the full form of the disease only occurs in males, although females can carry the gene that causes the disease and can experience some mild to moderate symptoms. Genes are units of material contained in a person's cells that contain coded instructions as for how certain bodily characteristics (such as eye color) will develop. All of a person's genes come from his/her parents. Genes can either be dominant or recessive. A gene that masks the effect of another gene is called a dominant gene. The gene whose expression is masked is known as a recessive gene.
A very rare, inherited disorder in which there is widespread damage to blood vessels. Other symptoms include high blood pressure, swelling (also known as edema), enlargement of the heart, and stroke. A stroke is a burst artery (a type of blood vessel that carries blood away from the heart) or a blockage of an artery in the brain.
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Genes are contained in structures called chromosomes. Each person has 23 pairs of chromosomes, meaning that there are 46 chromosomes in total. One of each pair of chromosomes is inherited from the mother and one of each pair is inherited from the father. The first 22 pairs of chromosomes (known as autosomes) are not involved in determining sex. The 23rd pair of chromosomes, however, is involved in determining sex. The 23rd pair of chromosomes consist of X and/or Y chromosomes. An X chromosome is shaped like an X, whereas a Y chromosome is shaped like a Y. If a person has two X chromosomes, the person will develop as a female. If a person has an X and a Y chromosome, the person will develop as a male. The X chromosome is much larger than the Y chromosome. The X chromosome has a few thousand genes whereas the Y chromosome has only a few genes. For this reason, most of the genes on the X chromosome have no counterpart on the Y chromosome. |
The genes of the Y chromosome are not capable of masking the expression of genes from the X chromosome. In females, however, the genes of one X chromosome are capable of masking the effects of the genes on the other X chromosome.
In females, one X chromosome is inherited from the mother and one from the father. In males, the X chromosome is inherited from the mother and the Y chromosome is inherited from the father. Thus, in males who have diseases due to abnormal genes on the X chromosome, the disease has been passed on from mother to son. The reason why the mother does not have the full form of the disease is because she has a dominant gene on the second X chromosome that partially or fully protects her from the effect of the recessive gene that causes Fabry disease.
Fabry disease was named after Johannes Fabry, a German skin doctor (1860 – 1930) who first reported it in 1898. That same year, the disease was also described by the English surgeon, William Anderson. For this reason, Fabry disease is sometimes referred to as Anderson-Fabry disease, Fabry-Anderson disease. Fabry disease is also known as Fabry’s syndrome, angiokeratoma corporis diffusum universale, alpha-galactosidase A deficiency (GLA deficiency), glycolipid lipidosis, and diffuse angiokeratoma.
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