PHENYLKETONURIA Case Study | Term Paper Tutors

Calculate the Price

Price (USD): $11

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.

"Do you need a similar assignment done for you from scratch? We have qualified writers to help you with a guaranteed plagiarism-free A+ quality paper. Discount Code: SUPER50!"

order custom paper
The World's Best Writers

Unlike other essay writing companies, we don’t just use any writers – we use the best of the best. Every writer is not only directly qualified in the subject they write for, but has been through and understands the challenges and difficulties of Higher Education.

Every writer is hand selected by our team to produce the best piece of work possible. We simply won’t settle for less.

18 Years in Business

Ever since we started back in 2003, we’ve led the industry from the front, setting trends and smashing expectations. We were the first company in the world to offer you guaranteed 2:1 and 1st class work and we’re one of the few companies located in the UK.

Why don’t you come and say hello?

We Love Writing

At UK Best Essays, we’re proud to know exactly what goes into making an awesome essay. We’ve dedicated over 14 years towards becoming experts in all things academic – from essays, assignments and coursework, through to dissertations, exams, reports and reflections.

While others come and go, UK Best Essays has grown and developed into one of the world’s leading academic support companies. Got more questions about our services?

© 2022 All rights reserved. UK Best Essays is a professional writing service that provides original papers. Our products include academic papers of varying complexity and other personalized services, along with research materials for assistance purposes only. All the materials from our website should be used with proper references.