Question

What is alkaptonuria?

Answer 1

Alkaptonuria:

1. It is also known as black urea, in this condition tyrosine and phenylamine amino acid residues cannot be fully broken down in the body.
2. It is a rare inherited disorder.
3. Alkaptonuria patients usually develop arthritis in early adulthood, generally in the spine and large joints.
4. Some features of alkaptonuria condition are heart problems, prostate stones, and kidney stones.

Causes:

1. Alkaptonuria is caused by mutations in the homogentisate 1,2-dioxygenase (HGD) gene.
2. It is an autosomal recessive disorder. HGD gene encodes for homogentisate dioxygenase (HGD).
3. This enzyme breaks down a toxic substance called homogentisic acid.
4. Due to the absence of the enzyme toxic substances buildups in the body that causes damage to bone and cartilages.

Symptoms:

1. Dark stains in diapers of babies
2. Blue-black urine on exposure to air
3. Osteoarthritis
4. Dark spots in eyes
5. Darken cartilage in the ear
6. Kidney or prostate stone
7. Black earwax