What are the consequences to PKU infants if they consume protein or aspartame?
a. Lack of PH enzyme causes phenylalanine buildup, which leads to impaired brain development.
b. Lack of tyrosinase enzyme causes phenylalanine buildup, which leads to impaired brain development.
c. Lack of phenylalanine causes defective PH enzyme, which leads to impaired brain development.
d. The pathway has a defective enzyme, so pigments are not produced, and the children are albinos.
Ans A
PKU is an inborn metabolic disorder.
Autosomal recessive disorder.
A gene on chromosome 12 which code for an enzyme phenylalanine hydroxylase gets mutated result in deficiency of this enzyme.
Phenylalanine hydroxylase is important in conversion of phenylalanine into tryrosine
In absence of this enzyme,phenylalanine start accumulating in bloog which result in mental retardation, light coloring of skin,eczema etc.
Patients are adviced to avaoid protein diet because of the accumulation of phenylalanine.
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