70037 Pink 42C>T Some amino acid Some GAA enzyme ~25 years digestive issues Delayed on-set high protein diet (<40% GAA activity) GLY GLU changes resulting produced although the decreased (limited carbs) Missense mutation in an altered function is reduced pulmonary function exercise program protein structure physical therapy 80038 Pink 16A>C Some amino acid Some GAA enzyme 27 years at weakness Delayed on-set Bi-Pap at night (<40% GAA activity) TYR ASP changes resulting produced although the onset; 31 pain *waiting for ERT Missense mutation in an altered function is reduced years at struggling to breath protein structure diagnosis
70037 Pink (<40% GAA activity) 42C>T GLY GLU Missense mutation Some amino acid changes resulting in an altered protein structure Some GAA enzyme produced although the function is reduced ~25 years digestive issues decreased pulmonary function Delayed on-set high protein diet (limited carbs) exercise program physical therapy 80038 Pink (<40% GAA activity) 16A>C TYR ASP Missense mutation Some amino acid changes resulting in an altered protein structure Some GAA enzyme produced although the function is reduced 27 years at onset; 31 years at diagnosis weakness pain struggling to breath Delayed on-set Bi-Pap at night *waiting for ERT