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Results 1 - 4 of 4 for Hyperphenylalaninemia
  1. Tetrahydrobiopterin deficiency 
    ... signs and symptoms of the condition. BH4 deficiency Hyperphenylalaninemia caused by a defect in biopterin metabolism Hyperphenylalaninemia, non-phenylketonuric Non-phenylketonuric hyperphenylalaninemia Genetic Testing Registry: ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  2. Phenylketonuria 
    ... condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People ... condition, such as variant PKU or non-PKU hyperphenylalaninemia.Changes in other genes may influence the severity ...
    https://medlineplus.gov/genetics/condition/phenylketonuria - Genetics
  3. Sepiapterin reductase deficiency 
    ... N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  4. Dopa-responsive dystonia 
    ... a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001 Aug;69(2): ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics