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Results 1 - 5 of 5 for Mild hyperphenylalaninemia
  1. Learning about Phenylketonuria (PKU) From the National Institutes of Health (National Human Genome Research Institute)  
    Phenylketonuria/Genetics ... Phenylketonuria ... National Human Genome Research Institute ... From the National Institutes of Health ... Phenylketonuria is an inherited disorder ...
    https://www.genome.gov/Genetic-Disorders/Phenylketonuria - External Health Links
  2. 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
  3. 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
  4. 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
  5. 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