Details of Disease
General Information of Disease (ID: DISYYKL5)
Disease Name | BH4-deficient hyperphenylalaninemia A | |||||
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Synonyms |
hyperphenylalaninemia, BH4-deficient, A; hyperphenylalanemia, BH4-deficient, A; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency; hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency; hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency; hyperphenylalaninemia, BH4-deficient, type A; PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included; BH4-deficient hyperphenylalaninemia A; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency; PTS deficiency; Bh4-deficient hyperphenylalaninemia type A; HPABH4A; 6-pyruvoyl tetrahydropterin synthase deficiency; hyperphenylalaninemia, BH4-deficient A; 6-pyruvoyl-tetrahydropterin synthase deficiency; hyperphenylalaninemia, Bh4-deficient, type a; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
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Definition |
An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.
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Disease Hierarchy | ||||||
Disease Identifiers | ||||||
Molecular Interaction Atlas (MIA) of This Disease
Molecular Interaction Atlas (MIA) | ||||||||||||||||||||||||||||||
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This Disease Is Related to 1 DME Molecule(s)
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This Disease Is Related to 2 DOT Molecule(s)
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References