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Disease 6-pyruvoyl-tetrahydropterin synthase deficiency

Name 6-pyruvoyl-tetrahydropterin synthase deficiency
Synonyms 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY | HPABH4A | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A | Hyperphenylalaninemia, BH4-Deficient, Type A | Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency | Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To PTS Deficiency | PTS Deficiency | PTS DEFICIENCY HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID C535325
OMIM® ID 261640
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes 6-pyruvoyl-tetrahydropterin synthase deficiency Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Phenylketonurias Has associated chemicals Has associated genes 6-pyruvoyl-tetrahydropterin synthase deficiency Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes 6-pyruvoyl-tetrahydropterin synthase deficiency Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes 6-pyruvoyl-tetrahydropterin synthase deficiency Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Phenylketonurias Has associated chemicals Has associated genes 6-pyruvoyl-tetrahydropterin synthase deficiency Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Phenylketonurias Has associated chemicals Has associated genes 6-pyruvoyl-tetrahydropterin synthase deficiency Has associated chemicals Has associated genes

Top ↑ Descendants

None.