How does a deficiency of homogentisate 1,2-dioxygenase lead to the development of alkaptonuria?
A
It results in the accumulation of tyrosine and phenylalanine in the body
B
It leads to the formation of homogentisic acid, which accumulates in connective tissue
✓
C
It causes a decrease in the production of melanin, resulting in skin depigmentation
D
It inhibits the activity of other enzymes involved in amino acid metabolism
Explanation
Alkaptonuria is caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid in connective tissue and resulting in ochronosis and other symptoms.
Enzymes in Disease
Biochemistry
Amino Acid Metabolism Disorders
Hard
MEDICAL
Confidence: high