Question

7. Describe how the Guthrie test is used to diagnose hrie test is used to diagnose phenylketonuria. 8. When is RhoGAM administered? Lototherapy of the 9. Summarize the recommended procedures of phototherapy of infant in the incubator. 10. What is meconium aspiration syndrome? An Overview of Growth, Development, and Nutrition 1. What should govern the nursing approach when caring for a child? 2. List and describe the stages of growth and development. 3. The term catch-up refers to what process?

Answer 1

1).

Phenylketoneuria (PKU)is a metabolic genetic disorder that causes elevated levels of phenylalanine in the blood. This disease causes intellectual disability. The PKU is an autosomal recessive condition caused due to the mutation in PAH (phenylalanine hydroxylase gene). In these patients, phenylalanine is not converted into tyrosine, so it accumulates in the body.

Guthrie test for PKU diagnosis in neonates:

In this method, the capillary blood sample is collected from the neonate on Guthrie cards and used for the test. It is a bacterial growth inhibition test.

The dried Guthrie card or the disc is incubated with the Bacillus subtilis bacteria in the present of B-2-thienyl-alanine, which is an inhibitor of the bacterial growth. The high phenylalanine levels in the sample overcome the growth inhibition by B-2-thienyl-alanine and allow the bacterial reproduction. Thus, the positive test result shows the bacterial growth.