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A 41-year-old member asked:

what type of mutation occurs in patients with pku?

1 doctor answer2 doctors weighed in
Dr. James Ferguson
Pediatrics 46 years experience
Autosomal recessive: The gene defect is carried by both asymptomatic parents who have one normal gene to make up for their defective one. When 2 defective genes end up in their baby the cells do not have the code needed to use phenylalanine. Toxic products build up in babies blood unless phenylalanine is removed from their diet.

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A 40-year-old member asked:

Please suggest what type of mutation occurs in pku?

1 doctor answer5 doctors weighed in
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 Nov 29, 2014

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