6-pyruvoyl-tetrahydropterin synthase deficiency
Synonyms: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases both tetrahydrobiopterin-dependent hydroxylases.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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6-pyruvoyl-tetrahydropterin synthase deficiency?
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