Difference between revisions of "Phenylketonuria 2011"
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=== Cross-references === |
=== Cross-references === |
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* [http://www.genome.jp/kegg-bin/show_pathway?ko00360+K00500 KEGG - Phenylalanine metabolism] |
* [http://www.genome.jp/kegg-bin/show_pathway?ko00360+K00500 KEGG - Phenylalanine metabolism] |
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| − | * [http://biocyc.org/META/NEW-IMAGE?type=PATHWAY&object=PHENYLALANINE-DEG1-PWY MetaCyc - Phenylalanine degradation (aerobic)] |
+ | * [http://biocyc.org/META/NEW-IMAGE?type=PATHWAY&object=PHENYLALANINE-DEG1-PWY MetaCyc - Phenylalanine degradation (aerobic)] |
== Mutations == |
== Mutations == |
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Revision as of 11:34, 6 May 2011
Contents
still under construction
Summary
Phenylketonuria causes several syndromes:
- Delayed mental and social skills
- Head size significantly below normal
- Hyperactivity
- Jerking movements of the arms or legs
- Mental retardation
- Seizures
- Skin rashes
- Tremors
- Unusual positioning of hands
Phenotype
The enzyme phenylalanine hydroxylase catalyzes the conversion of phenylalanie to tyrosine. If the function of phenylalanine hydroxlase is reduced by at least ... % the organism has phenylketonuria. The amount of phenylalanine in the blood rises to harming concentrations, which leads to several symptoms (see above). The more aggrevate symptoms are due to disturbances in the brain development.
Cross-references
See also description of this disease in
Biochemical disease mechanism
Phenylalanine hydroxylase is involved in the phenylalanine pathway. It catalyses the conversion of phenylalanine to tyrosine. It's the major way to reduce the concentration of phenylalanine. In phenylketonuria the function of this protein is reduced by at least ... %. The missing reduction of phenylalaine leads to harmful concentrations of phenylalanine. The enzyme ... is responsible for the transport of large neutral amino acids across the blood brain barrier. Through the high concentration of phenylalanine other large neutral amino acids are less frequently transported to the brain. These missing amino acids cause severe problems in the brain development.
Cross-references
Mutations
Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations.
Reference sequence
Which sequence does not cause the disease and is most often found in the population.
Neutral mutations
Disease causing mutations
There are 509 disease causing mutations known.
