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Pathway Description
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
Homo sapiens
Disease Pathway
Created: 2022-10-25
Last Updated: 2023-10-25
BH4-deficient hyperphenylalaninemia has several causes. One such cause is a PTS deficiency resultant from a genetic mutation. (In particular, a mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase.) The mutation is autosomal recessive. Common symptoms include: muscular hypotonia, ataxia, bradykinesia, choreoathetosis, depressivity, dysphagia, hyperkinesis, hypsarrhythmia, myoclonus, and others. BH4 is a cofactor involved in many things and associated with neurotransmitter synthesis. In short, the reduction of levels of BH4 creates issues in the metabolism of phenylalanine. This cascade of reactions produces the aforementioned symptoms.
References
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps) References
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Pubmed: 3366132
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Pubmed: 7698774
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Pubmed: 1520321
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Pubmed: 15489334
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Pubmed: 1282802
Ashida A, Hatakeyama K, Kagamiyama H: cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. Biochem Biophys Res Commun. 1993 Sep 30;195(3):1386-93. doi: 10.1006/bbrc.1993.2197.
Pubmed: 8216273
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