Which of the following hereditary diseases represents a congenital enzyme deficiency?
A. cystic fibrosis
B. sickle cell anemia
C. phenylketonuria
D. Marfan's syndrome
E. hereditary spherocytosis
C
All the diseases listed in this question represent a mutation of genes that encode a specific protein, but only phenylketonuria is related to a gene that encodes an enzyme (phenylalanine hydroxylase). Cystic fibrosis involves the cystic fibrosis transmembrane conductance regulator, sickle cell anemia involves hemoglobin beta gene, Marfan's syndrome involves a structural protein (fibrillin), and hereditary spherocytosis a structural protein (spectrin or ankyrin) in the cytoskeleton of red blood cells.
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