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PKU

QuestionAnswer
If deficientcy goes untreated what is the primary symptom? Mental retardation
PKU should be treated within the first __ - __ hours of life? 48-72
Is it a recessive gene, dominant gene or caused by a mutation? Recessive
PKU is treatable, True or False false
How his PKU inherited? It it is autosomal
What is the screening procedure to diagnose PKU? Gutherie test
To inherit PKU, a child must receive what? two abnormal PAH genes (that regulate the production of the enzyme), one from each parent who has a mutation in one PAH gene.
The PKU test was the nation's first what? first newborn screening test.
What was the first drug to help manage PKU? Kuvan (sapropterin dihydrocholoride)
Can PKU symptoms be prevented? Yes,they can be prevented if the baby is treated with a special diet that is low in phenylalanine.
Individuals with PKU cannot process a part of what protein? phenylalanine, which is present in most foods.
Created by: 9317300
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