Current state of the treatment landscape of phenylketonuria
Abstract Background Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by a deficiency of the L-phenylalanine-4-hydroxylase enzyme or its cofactor tetrahydrobiopterin (BH4) resulting in increased levels of phenylalanine (Phe) in blood and cerebrospinal fluid. Symptoms include h...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | https://doi.org/10.1186/s13023-025-03840-y |
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