Which of the following has a known association with phenylketonuria? 1) Presentation in the second year of life with absence seizures. 2) The association of red hair and brown eyes. 3) Normal development. 4) Musty odour. 5) Response of some patients to piridoxine.

Which of the following has a known association with phenylketonuria? 1) Presentation in the second year of life with absence seizures. 2) The association of red hair and brown eyes. 3) Normal development. 4) Musty odour. 5) Response of some patients to piridoxine.  
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Answers-4 Phenylketonuria is a quarter as common as congenital hypothyroidism, with an incidence of 1:10,000 live births. It is due either to phenylalanine hydroxylase deficiency or problems with synthesis or recycling of the bioptrine co-factor. The presentation is with infantile spasms or developmental delay between 6 and 12 months of age. Patients may be musty smelling, fair haired and blue eyed and may develop eczema. Treatment is with restriction of dietary phenylalanine, while ensuring sufficient for physical and neurological growth. Co-factor defects are treated with a diet low in phenylalanine and high in neurotransmitter precursors.
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