Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe | Orphanet Journal of Rare Diseases | Full Text

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe | Orphanet Journal of Rare Diseases | Full Text

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with ...

Authors:Tracy Brock Lowe, Jane DeLuca and Georgianne L. Arnold

Citation:Orphanet Journal of Rare Diseases 2020 15:266

Content type:Review

 

Published on: 25 September 2020

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