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Literature summary for 1.14.16.1 extracted from

  • Gramer, G.; Burgard, P.; Garbade, S.F.; Lindner, M.
    Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia (2007), J. Inherit. Metab. Dis., 30, 556-562.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information enzyme mutation can lead to tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. BH4 responsiveness in hyperphenylalaninaemia depends on the patient's genotype and residual PAH activity, of patients with moderate and classic forms of phenylketonuria, only a few are classified as responders and the clinical significance of the effect size may be small, molecular mechanism, phenotypes and clinical treatment, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
L-phenylalanine + tetrahydrobiopterin + O2 Homo sapiens
-
L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-phenylalanine + tetrahydrobiopterin + O2
-
Homo sapiens L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
?

Synonyms

Synonyms Comment Organism
PAH
-
Homo sapiens
phenylalanine hydroxylase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
tetrahydrobiopterin
-
Homo sapiens