6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Common Name(s)

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH; {612349}), tyrosine hydroxylase (TH; {191290}) and tryptophan hydroxylase (TPH1; {191060}), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits ({8:Dudesek et al., 2001}). HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia ({8:Dudesek et al., 2001}). Other forms of BH4-deficient HPA include HPABH4B ({233910}), caused by mutation in the GCH1 gene ({600225}), HPABH4C ({261630}), caused by mutation in the QDPR gene ({612676}), and HPABH4D ({264070}), caused by mutation in the PCBD1 gene ({126090}). {16:Niederwieser et al. (1982)} noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU; {261600}), caused by mutation in the PAH gene. Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia ({612716}), caused by mutation in the SPR gene ({182125}), and autosomal dominant dopa-responsive dystonia (DYT5; {128230}), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "6-Pyruvoyl-Tetrahydropterin Synthase Deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

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The terms "6-Pyruvoyl-Tetrahydropterin Synthase Deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
 

Author(s): Yu-Jin Qu, Fang Song, Yu-Wei Jin, Hong Wang

Journal: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2008 Apr;30(2):170-4.

 

To investigate the distribution character of the mutations of 6-pyruvoyl tetrahydropterin synthase (PTPS) gene and to provide effective basis for gene diagnosis of tetrahydrobiopterin deficiency (BH4D) in children with hyperphenylalaninemia.

Last Updated: 28 May 2008

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