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 |
| _version_ | 1848756916772143104 |
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| author | Williams, R. Mamotte, Cyril Burnett, J. |
| author_facet | Williams, R. Mamotte, Cyril Burnett, J. |
| author_sort | Williams, R. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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 with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intellectual impairment. However, since the introduction of newborn screening programs and with early dietary intervention, children born with PKU can now expect to lead relatively normal lives. A better understanding of the biochemistry, genetics and molecular basis of PKU, as well as the need for improved treatment options, has led to the development of new therapeutic strategies. |
| first_indexed | 2025-11-14T09:19:48Z |
| format | Journal Article |
| id | curtin-20.500.11937-44157 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:19:48Z |
| publishDate | 2008 |
| publisher | The Australasian Association of Clinical Biochemists Inc. |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-441572017-01-30T15:12:29Z Phenylketonuria: An Inborn Error of Phenylalanine Metabolism Williams, R. Mamotte, Cyril Burnett, J. 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 with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intellectual impairment. However, since the introduction of newborn screening programs and with early dietary intervention, children born with PKU can now expect to lead relatively normal lives. A better understanding of the biochemistry, genetics and molecular basis of PKU, as well as the need for improved treatment options, has led to the development of new therapeutic strategies. 2008 Journal Article http://hdl.handle.net/20.500.11937/44157 The Australasian Association of Clinical Biochemists Inc. restricted |
| spellingShingle | Williams, R. Mamotte, Cyril Burnett, J. Phenylketonuria: An Inborn Error of Phenylalanine Metabolism |
| title | Phenylketonuria: An Inborn Error of Phenylalanine Metabolism |
| title_full | Phenylketonuria: An Inborn Error of Phenylalanine Metabolism |
| title_fullStr | Phenylketonuria: An Inborn Error of Phenylalanine Metabolism |
| title_full_unstemmed | Phenylketonuria: An Inborn Error of Phenylalanine Metabolism |
| title_short | Phenylketonuria: An Inborn Error of Phenylalanine Metabolism |
| title_sort | phenylketonuria: an inborn error of phenylalanine metabolism |
| url | http://hdl.handle.net/20.500.11937/44157 |