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Phenylketonuria
Loss of Function

Phenylketonuria

  • Genotype

    Pah KO

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Cognitive impairment, Motor coordination, Seizures, Social isolation, Repetitive behavior

  • Biomarker

    Phenylalanine, Tyrosine, Dopamine, NfL, Myelin basic protein

  • Gene Expression Markers

    TH, DRD2, TPH2, SYN1, SOD1, BAX, BCL2

  • Physiology Changes

    Hypomyelination, ROS production, Increased neuronal excitability

  • Histology Grading Endpoint

    Reduced white matter density, Neuronal shrinkage, Astrogliosis, Myelin sheath thinning

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