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Type I Citrullinemia Research Paper

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Aarushi Roperia Honors Biology Pierce Genetics Disease She pressed the child close to her and with an unmovable gaze tightened her grip on him, taking in every detail. I paused and watched. I knew that as soon as I told her, the same creamy white walls of the hospital room that once held her uncontrollable euphoria over the birth of her son, would seem harrowing and confining. "Ms. Garcia -", I started, "We've noticed a complication with your son." Her face fell, and I knew in that instant her mind went rampant, replaying over every illness she's ever heard of. "He tested positive for Type I Citrullinemia." I gave her a few seconds to process the situation. "It is a rare inherited disorder that affects about 1 in 57,000 people worldwide." A wave of panic washed over her face and her jaw had dropped as I spoke. "Ms. Garcia- are you following what I'm saying?"
 She spoke after a slight pause, "You said inherited, does that mean I have this?” I clarified, "This condition is inherited in an autosomal recessive pattern, meaning both you and your partner were carriers for Citrullinemia, but aren't really affected. However there is a 25% chance that if you and your partner have another kid, he or she will have Citrullinemia" "So what's wrong with him", she bluntly put. "Because of a rare mutation, he is missing a gene that is …show more content…

The exact prognosis for a child with Citrullinemia has not been well established, because it is very rare, so there a lot of gray area. Now, without treatment the longest the baby can survive is 17 days. But, with the help of medication, dialysis, and sticking to a strict diet regimen, we can really fight this thing. Unfortunately, regardless of treatment, your child will have significant mental and neurological deficiencies." Her brows furrowed as she placed her fingertips to her temple, she sighed, "I don't know if I can afford

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