About Alkaptonuria
Learn about the disease, illness and/or condition Alkaptonuria including: symptoms, causes, treatments, contraindications and conditions at ClusterMed.info.
Alkaptonuria
Alkaptonuria |
---|
Alkaptonuria InformationHow 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. 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. 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. What is alkaptonuria?Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. What other names do people use for alkaptonuria?
Where can I find information about treatment for alkaptonuria?These resources address the management of alkaptonuria and may include treatment providers.
|
More Diseases
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Diseases & Illnesses Definitions Of The Day
- Smoking and Quitting Smoking ‐ Getting ready to quit smoking, How can nicotine-containing products be used safely? …
- Tension Headache ‐ Can tension headaches be prevented?, Home remedies and cures for tension headaches …
- IVC (Intravenous Cholangiogram) ‐ How is an intravenous cholangiogram done?, What are the risks of an intravenous cholangiogram? …
- Fetal Alcohol Syndrome (FAS) ‐ Fetal alcohol syndrome (FAS) facts, How do physicians diagnose fetal alcohol syndrome? …
- Hematocrit ‐
- Cephalohematoma (Newborn Jaundice (Neonatal Jaundice)) ‐ Breast milk jaundice, Breastfeeding jaundice, Can jaundice in newborns be prevented? …
- Polyps, Colon (Colon Polyps) ‐ Are the size of colon polyps related to cancer risk?, Can colon polyps be prevented? …
- AATD (Alpha 1 Antitrypsin Deficiency) ‐ Alpha-1 antitrypsin deficiency definition and facts*, Alpha-1 antitrypsin deficiency treatment and management guidelines …
- Rheumatoid Disease (Rheumatoid Arthritis) ‐ "First-line" rheumatoid arthritis medications, "Second-line" or "slow-acting" rheumatoid arthritis drugs (disease-modifying anti-rheumatic drugs or DMARDs) …
- Surface Echo (Echocardiogram) ‐ How should one prepare for an echocardiogram?, What are the different types of echocardiograms? …