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

25 Sept 2020

Abstract excerpt

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...

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PMID: 32977849
DOI: 10.1186/s13023-020-01541-2

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