Question

CLASS 12 WHAT IS ALKAPTONURIA???

Answer 1

Answer:

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.

Answer 2

Explanation:

1. Alkaptonuria is caused by the deficiency of a single enzyme called homogentisate 1,2 dioxygenase
2. It is autosomal recessive in inheritance, and is a classical example of an inborn error of metabolism .

Pedigree

The carrier rate is 50% (receiving only one defective copy), and these individuals have no symptoms. 25% of offspring may be free of disease

Major symptoms

• Arthritis involving the spine as well as large joints
• This may be noticed in infants and leads to the diagnosis of this disorder in childhood