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Results 1 - 10 of 10 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. PCBD1 gene 
    ... the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. ... dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet. 1998 Aug;103(2):162-7. ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  3. PTS gene 
    ... Chiang SH, Wu SJ, Hsiao KJ. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. Clin Chim Acta. 2001 Nov; ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  4. PAH gene 
    ... condition, such as variant PKU or non-PKU hyperphenylalaninemia. More About This Health Condition L-Phenylalanine,tetrahydrobiopterin: ...
    https://medlineplus.gov/genetics/gene/pah - Genetics
  5. GCH1 gene 
    ... N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  6. QDPR gene 
    The QDPR gene provides instructions for making an enzyme called quinoid dihydropteridine reductase. This enzyme helps carry out one step in the chemical ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics
  7. 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
  8. 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
  9. SPR gene 
    ... a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001 Aug;69(2): ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  10. 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