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ENHyperphenylalaninemia, Bh4-Deficient, B (HPABH4B)
Alias:
Gtp Cyclohydrolase I Deficiency
Hyperphenylalaninemia Due to Gtp Cyclohydrolase Deficiency
Hpabh4b
Bh4-Deficient Hyperphenylalaninemia B
Gtpch Deficiency
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase I Deficiency
Atypical Severe Phenylketonuria Due to Gtp Cyclohydrolase I Deficiency
Gtp Cyclohydrolase I Deficiency with Hyperphenylalaninemia
Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B
Guanosine Triphosphate Cyclohydrolase I Deficiency
Hyperphenylalaninemia with Neopterin Deficiency
Hyperphenylalaninemia, Bh4-Deficient, Type B
Gtp Cyclohydrolase 1 Deficiency
Gch1 Deficiency
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Hyperphenylalaninemia, Bh4-Deficient, B, also known as gtp cyclohydrolase i deficiency, is related to hyperphenylalaninemia, bh4-deficient, a and tetrahydrobiopterin deficiency, and has symptoms including lethargy, muscle rigidity and seizures. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, B is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Metabolism and Metabolism of cofactors. Affiliated tissues include eye and endothelial, and related phenotypes are tremor and global developmental delay
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