Alkaptonuria (ALD) is an inherited genetic disorder that affects the body's ability to break down certain proteins. This condition, which is caused by mutations in the gene encoding the enzyme homogentisic acid oxidase (HGO), leads to a buildup of homogentisic acid (HGA) in the body. While both males and females can be affected by ALD, only females can be carriers of the disorder.
What is ALD?
ALD is a rare genetic disorder that is caused by a mutation in the gene that encodes the enzyme homogentisic acid oxidase (HGO). This enzyme is responsible for breaking down the amino acid homogentisic acid (HGA). When this enzyme is not functioning properly, it leads to a buildup of HGA in the body, which can cause symptoms such as joint pain, dark urine, and skin discoloration.
Why Can Only Females be Carriers of ALD?
ALD is an autosomal recessive disorder, meaning that both males and females can be affected. However, only females can be carriers of the disorder. This is because the gene for ALD is located on the X chromosome, which is one of the two sex chromosomes. Females have two X chromosomes, while males only have one. This means that an X-linked recessive disorder like ALD can only be passed down from a mother to her daughter. If a male inherits the mutated gene, he will be affected by the disorder.