Paige Saavedra

6th period
10-4-19

Phenylketonuria in a one-year old child from India

Published in 2017
https://iaimjournal.com/wp-content/uploads/2017/09/iaim_2017_0409_28.pdf

Summary: A one-year old boy born in Indian was born with phenylketonuria which is an inborn
error. When he was born, he was alert but had no proper eye contact with others. The report
discusses how PKU is a rare genetic disorder in India due to being a recessive gene. Due to
ethnical traits, some people are more likely to have PKU rather than others. It was a rare case
for India to find a boy with PKU. It was a surprise to them and the family because of how they
never knew the possibilities to treat this disorder. They put the one year old on a special diet
restricting his phenylalanine intake. They noticed in his brain scans that there were differences
compared to a normal brain scan. This was an identification that the boy had PKU.

Project topic connection: This connects to my project topic because I am doing research about
PKU. I will be looking at how PKU has affected people and how they treat it by their diet.
Depending on the ethnicity, PKU can be more common in others. For example, the article
stated how it was a rare occurrence for someone to be diagnosed with PKU that is of Asian
ethnicity. It would more likely occur if the patient was either white or European. Most
ethnicities like Hispanic or Asian would not have this type of metabolic disorder. Even though
this type of metabolic disorder is not as rare as compared to others, it was rare for it to occur in
an Indian boy. When I will be with my mentor, I will most likely see patients with other
metabolic disorders, but PKU will be the most common one.

Personal Response: I was surprised when I first read this article because of how ethnicity
effects the chances of people having PKU. Before reading this article, I had thought that it
could affect anyone in any ethnicity, but some ethnicities are more likely to have it then others.
This made it interesting to read about because no one in India had experienced this before.
They had to change his diet which most have to do if they have PKU. I thought this would end
up in a bad situation, but they were able to adapt to the metabolic disorder. If they were to not
adapt to his situation, he would have been mentally affected, but not physically. This would
have been a bad situation for him and his family because of them not knowing how to deal with
the situation. I am glad that they were able to detect PKU before it was too late because of
how it could have ended up.
 Paige Saavedra
6th period
10-4-19

Citation: A Case Report: Phenlyketonuria in a One-Year-Old Child from India.