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Results 1 - 4 of 4 for Mild hyperphenylalaninemia
  1. PCBD1 gene 
    ... in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  2. Phenylketonuria 
    ... condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment.PKU can often ...
    https://medlineplus.gov/genetics/condition/phenylketonuria - Genetics
  3. 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
  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