Neonatology MCQ- Q25

PEDIATRIC MCQ  SECTION   Neonatology -   Q25

 

25. A  A newborn born normally and on time after an uneventful pregnancy at home. He was brought to the ER 12 hours later with symptoms such as lethargy, vomiting, reluctance to feed, a bulging fontanelle, and hypothermia (95F). In addition, the mother also observed a single episode of fit at home. His laboratory panel reveals Ammonia 300µ/L and increased plasma glutamine and alanine levels. What is the most likely diagnosis for the child?

A. Organic Acidemia
B. Aminoacidopathy
C. urea cycle disorders
D. Hypoglycemia
E. Infantile spasm.

ANSWER= Ans C
Explain:- This is an instance of elevated plasma glutamine and ammonia levels that may be related to the urea cycle. In cases of inborn metabolic abnormalities, such as urea cycle disorders, amino acidopathy, and organic acidemia, the newborn was initially healthy but eventually displayed symptoms of a very serious illness within a short period of time.

                                                       Previous.