alcaptonuria Sentence Examples
- Alcaptonuria is a hereditary metabolic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase.
- Individuals with alcaptonuria experience a buildup of homogentisic acid due to the impaired breakdown of tyrosine.
- Alcaptonuria is often diagnosed through urine tests, as the urine of affected individuals turns dark upon exposure to air.
- The darkening of connective tissues, ears, and nails is a characteristic symptom of alcaptonuria.
- Managing alcaptonuria involves dietary restrictions and close monitoring of symptoms to prevent complications.
- Alcaptonuria is inherited in an autosomal recessive manner, meaning both parents must carry the gene for a child to be affected.
- The genetic counseling process becomes crucial for families with a history of alcaptonuria to understand and manage the risk of passing on the disorder.
- Individuals with alcaptonuria are advised to avoid certain foods high in tyrosine to minimize the production of homogentisic acid.
- Research in the field of genetics aims to discover new treatment options and therapies for individuals living with alcaptonuria.
- Support groups and patient advocacy organizations play a crucial role in raising awareness and providing resources for those affected by alcaptonuria.
alcaptonuria Meaning
Wordnet
alcaptonuria (n)
a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
Synonyms & Antonyms of alcaptonuria
No Synonyms and anytonyms found
FAQs About the word alcaptonuria
a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
No synonyms found.
No antonyms found.
Alcaptonuria is a hereditary metabolic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase.
Individuals with alcaptonuria experience a buildup of homogentisic acid due to the impaired breakdown of tyrosine.
Alcaptonuria is often diagnosed through urine tests, as the urine of affected individuals turns dark upon exposure to air.
The darkening of connective tissues, ears, and nails is a characteristic symptom of alcaptonuria.
