Answered: Phenylketonuria (PKU) is an autosomal…

Name: Phenylketonuria (PKU) is an autosomal recessive disease that results f
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Description: Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood when the brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems.

QUESTION:

Describe the results depicted in Fig. 1
Use the first question to provide an explanation for these observations.
What type of genetic effect is this? Explain your reasoning.

WISC Full Scale IQ at 7 Years
160
140
120
100
80
60
40
20
0246 8 10 12 14 16 18 20 22 24
Average Maternal Phenylalanine Level
During Pregnancy
Fig. 1: Relation of average phenylalanine in maternal blood during
pregnancy and child Wechsler Intelligence Scale for Children (WISC)-
Revised IQ scores at age 7 years. (Note: solid line represents predicted
IQ scores under the two-piece linear spline model.) From Widaman,
2009 (Curr Dir Psychol Sci.)

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