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Phenylketonuria
Loss of Function

Phenylketonuria

  • Genotype

    pah

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Cognitive function, Anxiety, Sensory motor function, Motor coordination, Social isolation

  • Biomarker

    Phenylalanine, Tyrosine, Dopamine, Norepinephrine, Neopterin

  • Gene Expression Markers

    Th, Tph2, Bdnf, Syn1, Slc7a5, Nrf2, Sod

  • Physiology Changes

    Body weight, Hyperpigmentation, Lethargy

  • Histology Grading Endpoint

    Reduced neuronal density, Hypomyelination, Cellular vacuolation, Hepatocellular changes

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