A disease called phenylketonuria causes mental retardation, reduces skin pigmentation, and also affects the coloration of urine. What kind of effect is exhibited by the gene responsible for this disease?

Question

anonymous · Answer

ASAP PLEASE

agreene · Answer

Just judging by the name... since its been forever since biochem... I'd say phenylketonuria is the inability to properly break down phenylalanine.

Of course, like I said, been forever since biochem, so I'm not 100% the symptoms match, but just based on the name of the disease... yeah

aaronq · Answer

effect exhibited by the gene, not the protein? it could be as simple as a "mutation"...

abb0t · Answer

Like @aaronq stated, could be just a simple mutation. Since the description says that it affects the persons phenotype - skin pigmentation.

anonymous · Answer

phenylketoneuria - the name coz the increase in levels of phe and phenylpyruvate..phenylalanine hydroxylase is the enzyme that hydroxylates phe to tyrosine so that the tyrosine is used for production of ketone bodies which are major source of energy in some tissues like brain ....but if it is not so then this phe tranaminates with pyruvate and forms phenylpyruvate...so the effect of some damage in the gene responsible for this PKU would result in a  bad protein product that might be the enzyme phe hydroxylase.....