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PKU (Phenylketonuris)
Genetics/ Causes
PKU is a genetic disorder, which prevents the normal use of protein food. PKU is a genetic inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (newborn screening). What characterizes PKU is the not having an enzyme that is responsible for processing the essential amino acid phenyline. ... PKU is an autosomal recessive disorder. Each parent of a child with PKU carries one defective gene for the disorder and one normal gene. In order for a child to inherit PKU, both parents must be PKU carriers. ... Usually the individual has a normal IQ, but the incidence of attention deficit hyperactivity disorder (ADHD) and learning disabilities is higher compared to those children who do not have PKU
Diagnosis/ Testing
Using a test developed in the 1960s by a March of Dimes grantee, babies are tested before they leave the hospital. ... 0 milligrams per deciliter (mg/dl) or higher are considered likely to have "classical" PKU. ... All states now routinely screen newborns for PKU.
Approximate Word count = 837
Approximate Pages = 3.3
(250 words per page double spaced)
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