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

ABSTRACT:

Background

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 changes in cognitive and psychological functioning. Skilled clinical management is essential for preventing complications and providing comprehensive care to patients. In the last decade, the American College of Genetics and Genomics (ACMG) and a group of European experts developed separate guidelines to provide recommendations for the management and care of persons with PAH deficiency. The purpose of this paper was to compare and contrast these guidelines in order to understand the different approaches to PAH deficiency care.

Methods

We examined the procedur

SUBMITTER: Lowe TB 

PROVIDER: S-EPMC7519570 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature