Patient2: Female, 34 years report, Iranian, Iran

CasePresentingHPOs: HP:0002098, HP:0003236, HP:0002910 (Respiratory distress, Increased serum CK, Increased transaminases)

HPOsFreeText: GAA measurement from dried blood specimen at pH 3.8 was 0.13 nmol/spot * 21 h (ref 0.9-7.2) with acarbose and 0.65 nmol/spot * 21 h (ref 1.5-10) without acarbose and 3.84 nmol/spot * 21 h at pH 7.0 (ref 1.8-17.1), AST levels at 165 (ref 0-45), ALT levels at 261 (ref 5-40), CPK levels at 1212 (ref 25-200), FEV1 at 0.83, FEV1/FVC at 90.25

CaseAddInfo: Sibling of P1