Phenylketonuria: An Inborn Error of Phenylalanine Metabolism
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU is associated w...
| Main Authors: | , , |
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| Format: | Journal Article |
| Published: |
The Australasian Association of Clinical Biochemists Inc.
2008
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| Online Access: | http://hdl.handle.net/20.500.11937/44157 |
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