Which of the following is not a feature of Phenylketonuria?
Correct Answer: Reduced tendon reflexes
Description: Ans. B. Reduced tendon reflexesPhenylketonuria (PKU), is caused by phenylalanine hydroxylase deficiency, is the most common inborn error of amino acid metabolism. The results of a deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body's ability to metabolize the essential amino acid phenylalanine. This leads to accumulation of phenylalanine in body fluids. Elevated phenylalanine levels negatively impact cognitive function, and individuals with classic PKU almost always have intellectual disability unless levels are controlled through dietary or pharmacologic treatment. Fair skin and hair resulting from impairment of melanin synthesis, is the most characteristic cutaneous manifestation of PKU . Other manifestations include eczema (including atopic dermatitis), Light sensitivity, Increased incidence of pyogenic infections, Increased incidence of keratosis pilaris, Decreased number of pigmented nevi, Scleroderma like plaques and hair loss Other manifestations include intellectual disability, mousy odour, epilepsy, extrapyramidal symptoms and eye abnormalities.
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