Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria
Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). Historically PKU was a common genetic cause of severe learning difficulties and developmental delay, but with the introduction of newborn screening and early di...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2011-06-01
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| Series: | Therapeutic Advances in Endocrinology and Metabolism |
| Online Access: | https://doi.org/10.1177/2042018811402248 |