Class 12 · Principles of Inheritance and Variation

Phenylketonuria: Enzyme Defect & Mental Retardation — NEET Biology

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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.

NCERT Biology · Class 12 · Chapter 4 · Paragraph 88
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Why is thalassemia classified as a quantitative haemoglobin disorder while sickle-cell is qualitative?

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