Alkaptonuria | search
Click here to view Alkaptonuria news from 60+ newspapers.
Bookmark or Share- Alkaptonuria | About the Disease | GARD - Genetic and Rare Diseases ...A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the s...
- Alkaptonuria - GeneReviews® - NCBI BookshelfThe three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade.
- Alkaptonuria - The Medical Biochemistry PageAlkaptonuria is a rare autosomal recessive inherited disorder caused by defects in the gene encoding an enzyme, homogentisic acid oxidase, involved in the catabolism of phenylalanine and tyrosine.
- Alkaptonuria - NHSAlkaptonuria, or black urine disease, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.
- Alkaptonuria: Causes, Symptoms and Diagnosis - HealthlineAlkaptonuria is a rare genetic disorder that causes homogentisic acid to build up in your body. Learn about the symptoms, causes, and treatment.
More
