Alkaptonuria (cont.)
How common is alkaptonuria?
This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic.
What genes are related to alkaptonuria?
Mutations in the HGD gene cause alkaptonuria.
The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air.
How do people inherit alkaptonuria?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about treatment for alkaptonuria?
These resources address the management of alkaptonuria and may include treatment providers.
You might also find information on treatment of alkaptonuria in
Educational resources and
Patient support.
What other names do people use for alkaptonuria?
- AKU
- Alcaptonuria
- Homogentisic acid oxidase deficiency
- Homogentisic acidura
SOURCE: Genetics Home Reference
Last Editorial Review: 5/6/2008
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