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bn:03112248n
Noun Concept
Categories: Amino acid metabolism disorders, Autosomal recessive disorders, Vitamin, coenzyme, and cofactor metabolism disorders
EN
BH4-deficient hyperphenylalaninemia A  6-Pyruvoyltetrahydropterin synthase deficiency  6-pyruvoyl-tetrahydropterin synthase deficiency  HPABH4A  hyperphenylalaninemia, BH4-deficient A
EN
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Wikipedia
Definitions
Relations
Sources
EN
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Wikipedia
Human disease Wikidata
IS A
genetic disease
rare disease
hyperphenylalaninemia
enzymopathy
GENETIC ASSOCIATION
PTS
Wikipedia
EN
6-Pyruvoyltetrahydropterin synthase deficiency
Wikidata
EN
BH4-deficient hyperphenylalaninemia A
Wikipedia Redirections
EN
6-pyruvoyl-tetrahydropterin synthase deficiency, 6-pyruvoyltetrahydropterin synthase deficiency
Wikidata Alias
EN
6-pyruvoyl-tetrahydropterin synthase deficiency, Bh4-deficient hyperphenylalaninemia A, HPABH4A, hyperphenylalaninemia, BH4-deficient A, hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, PTS deficiency, tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency

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