Learning Topic 1: Inherited Metabolic Disorder

Question: Is tetrahydrobiopterin (BH4) useful in managing patient with Phenylketonuria?/ PKU?Explain

(Use references in havard style and own words, explain what PKU condition is, talk about phenylalanine hydroxylase deficiency and BH4 in PKU. Remember not all patients are responsive to BH4 treatment.)

 

Summarise the paper below and explain why you chose the article/paper and also whether you consider the data in those paper represents a small or a significant advance in your opinion. Look at the example document provided.

References :

https://academic.oup.com/jcem/article/81/2/470/2649344

https://www.sciencedirect.com/science/article/pii/S1096719219303634?via%3Dihub
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7911353/