A female baby was born after a non—eventful normal pregnancy. For the first few days she was healthy but then started to vomit frequently. Her mother noted that her urine had apeculiar mousy smell. When the infant was a month old she was admitted to hospital where they realised that the genetic screening test after her birth was deficient. Her blood tests showed that the level of Phenylalanine Was (1.6 Mmol dm—3) reference value <0.1 Mmol dm---3. Questions to be considered 1. What is the diagnosis for this baby? 2. Describe why this disease occurs and the mode of inheritance. 3. Explain why her urine smells differently from normal urine. 4. What are the clinical features you would expect to see? 5. How should she be treated? 6. What would happen if this child is not treated? Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun 2006; 33(2): 411-79. Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. Oct 2005; 33(4): 267-71.
Delivering a high-quality product at a reasonable price is not enough anymore.
That’s why we have developed 5 beneficial guarantees that will make your experience with our service enjoyable, easy, and safe.
You have to be 100% sure of the quality of your product to give a money-back guarantee. This describes us perfectly. Make sure that this guarantee is totally transparent.Read more
Each paper is composed from scratch, according to your instructions. It is then checked by our plagiarism-detection software. There is no gap where plagiarism could squeeze in.Read more
Thanks to our free revisions, there is no way for you to be unsatisfied. We will work on your paper until you are completely happy with the result.Read more
Your email is safe, as we store it according to international data protection rules. Your bank details are secure, as we use only reliable payment systems.Read more
By sending us your money, you buy the service we provide. Check out our terms and conditions if you prefer business talks to be laid out in official language.Read more