alkaptonuria Synonyms
No Synonyms and anytonyms found
alkaptonuria Meaning
alkaptonuria (n)
a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
alkaptonuria Sentence Examples
- Alkaptonuria is a rare inherited metabolic disorder characterized by the body's inability to properly break down homogentisic acid.
- Individuals with alkaptonuria excrete homogentisic acid in their urine, resulting in dark discoloration that can turn black upon exposure to air.
- The genetic mutation responsible for alkaptonuria affects the enzyme homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid in various tissues.
- Ochronosis, the buildup of homogentisic acid, can cause dark pigmentation in the connective tissues, leading to joint and cartilage problems.
- Alkaptonuria is inherited in an autosomal recessive manner, requiring both parents to pass on a mutated gene for a person to have the disorder.
- Early detection of alkaptonuria through urine analysis and genetic testing is crucial for effective management and prevention of complications.
- People with alkaptonuria may experience arthritis-like symptoms due to the deposition of homogentisic acid in the joints.
- A low-protein diet, restricting the intake of tyrosine, is often recommended to manage alkaptonuria and reduce the production of homogentisic acid.
- Treatment options for alkaptonuria are limited, but ongoing research aims to develop targeted therapies to address the underlying metabolic dysfunction.
- Regular monitoring of individuals with alkaptonuria is essential to manage symptoms and prevent complications associated with the buildup of homogentisic acid.
FAQs About the word alkaptonuria
a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
No synonyms found.
No antonyms found.
Alkaptonuria is a rare inherited metabolic disorder characterized by the body's inability to properly break down homogentisic acid.
Individuals with alkaptonuria excrete homogentisic acid in their urine, resulting in dark discoloration that can turn black upon exposure to air.
The genetic mutation responsible for alkaptonuria affects the enzyme homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid in various tissues.
Ochronosis, the buildup of homogentisic acid, can cause dark pigmentation in the connective tissues, leading to joint and cartilage problems.
