Phenylketonuria: This inborn error of metabolism is also inherited as the autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a result of this phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives. Accumulation of these in brain results in mental retardation. These are also excreted through urine because of its poor absorption by kidney.
Adjacent to a frequently-asked paragraph in the same chapter.
Why is thalassemia classified as a quantitative haemoglobin disorder while sickle-cell is qualitative?
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