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Maternal & Newborn Health - Newborn (24314122 (Tutorial) QID: 12409)

A. It is a genetic disorder that is autosomal dominant.

B. Children with phenylketonuria commonly have a musty odor to their urine.

C. Hypopigmentation of the hair, skin, and irises is a prominent sign of the disorder.

D. Common manifestations of PKU include lethargy, poor feeding, vomiting, diarrhea, hypoglycemia, and metabolic acidosis.

E. With PKU, the hepatic enzyme phenylalanine hydroxylase is over produced by the body.


Statistics

Difficulty level - Hard
1/3Avg. Peers Score
Time taken - 52 s

Subject/Lesson

  • Subject

    Maternal & Newborn Health
  • Lesson

    Newborn

Client Need

  • Test Plan

    Physiological Adaptation
  • Related Topic

    Alterations in Body Systems

Item Type

  • Item Type

    Knowledge/Comprehension
Explanation

Choice B is correct. Phenylketonuria, or PKU, is a genetic disorder that results in central nervous system damage from toxic levels of the essential amino acid phenylalanine. The musty odor, urine smell, and hypopigmentation of the hair, skin, and irises are signs of PKU.

Choice C is correct. Hypopigmentation of the hair, skin, and irises are signs of PKU. 

Choice D is correct. Common manifestations of PKU include lethargy, poor feeding, vomiting, diarrhea, hypoglycemia, metabolic acidosis, respiratory distress, apnea, hypothermia, coma and seizures.

Choice A is incorrect. The disease is inherited as an autosomal recessive manner.

Choice E is incorrect. PKU is caused by an absence of the enzyme phenylalanine hydroxylase which is needed to metabolize phenylalanine.

Related Videos

2 Key Topics

Additional Info

✓  The PKU newborn screening is done through drops of blood from the newborn's heel onto a special type of paper

✓  PKU symptoms tend to present closer to 6 months of age

Last Updated - 01 Aug 2024