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A 40-year-old member asked:

Please suggest what type of mutation occurs in pku?

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Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
PKU is inherited by : autosomal recessive transmission. Both parents carry a mutation of a gene on the long arm of Chromosome 12, causing deficiency of the enzyme phenylalanine hydroxylase in a child who inherits both mutant genes. The child is unable to use an amino acid called Phenylanine. Excess Phenylalanine from dietary protein is toxic to the brain.See http://www.npkua.org/Education/AboutPKU.aspx

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Last updated Sep 22, 2014

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