Question

Alkeptonuria - Explain the genetic basis.

Answer 1

Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called homogentisic dioxygenase (HGD). This enzyme is used to break down a toxic substance called homogentisic acid. When you don’t produce enough HGD, homogentisic acid builds up in your body.The buildup of homogentisic acid causes your bones and cartilage to become discolored and brittle. This typically leads to osteoarthritis, especially in your spine and large joints. People with alkaptonuria also have urine that turns dark brown or black when it’s exposed to air.

Answer 2

Dear Student,

◆ Alkaptonuria -

• Also called as black urine disease as urine turns black and alkaline on standing.
• It is characterised by ochronosis and arthritis.

● Genetic basis -

• It is inborn error of metabolism with autosomal recessive inheritance.
• It is due to defect in phenylalanine and tyrosine metabolism.
• There is deficiency of enzyme homogentisate-1,2-dioxygenase.
• There is accumulation of homogentisic acid which deposits in connecting tissues simulating arthritis.

Thanks dear. Hope this helps you...