top of page
Pompe disease
Loss of Function

Pompe disease

  • Genotype

    GAA KO

  • Mechanism

    Loss of Function

  • Phenotype

    Motor deficits, Exploratory behavior, Feeding behavior, Fatigue

  • Biomarker

    Creatine Kinase, AST, ALT, Glucose, Troponin T, Myostatin, GFAP

  • Gene Expression Markers

    GYS1,AGL, LAMP1 LAMP2 , MYH3,MYOD1 ,TGFB1, COL1A1,IL6 

  • Physiology Changes

    Muscle weakness, Postural abnormalities, Hearing disabilities, Breathing difficulties, Cardiomyopathy

  • Histology Grading Endpoint

    Massive intracellular glycogen deposition within lysosomes,Enlarged and vacuolated muscle fibers, Accumulation of autophagic vacuoles

bottom of page