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Disease Information for Tetrahydrobiopterin deficiency/Atypical PKU: Synonyms: Synonyms
- Clinical Manifestations (58)
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- Laboratory Tests (2)
- Associated Diseases & Rule outs (8)
- Disease Mechanism & Classification (24)
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- Definition
- External Links Related to Tetrahydrobiopterin deficiency/Atypical PKU
- Synonym
- Atypical phenylketonuria, Atypical Phenylketonurias, Atypical PKU, DEFIC DIS DIHYDROPTERIDINE REDUCTASE, Deficiency Disease Dihydropteridine Reductase, DHPR Dihydropteridine reductase deficiency, DHPR deficiency, DHPR Dihydropterid reduct def, Dihydropteridine reductase def, DIHYDROPTERIDINE REDUCTASE DEFIC DIS, Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency (disorder), Dihydropteridine Reductase Deficiency Disease, Hyperphenylalaninaemia type IV, Hyperphenylalaninemia type IV, IIs Phenylketonuria, Phenylketonuria atypical, Phenylketonuria II, Phenylketonuria IIs, Phenylketonurias Atypical, Synonym/6-Pyruvoyl tetrahydropterin synthetase (PTPS) deficiency/Var, Synonym/Atypical hyperphenylalaninemia, Synonym/Atypical PKU, Synonym/BH4 deficiency, Synonym/DHPR deficiency/variant, Synonym/Dihydrobiopterin synthetase deficiency/Variant, Synonym/Dihydropteridine reductase def/variant, Synonym/GTP Cyclohydrolase 1 (GTPCH) Deficiency, Synonym/Malignant hyperphenylalaninemia, Synonym/Malignant PKU/Phenylketonuria, Synonym/Pterin-4-alpha-carbinoolamine (PCD) dehydratase def/variant
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