Chu T.-H.YIN-HSIU CHIENLin H.-Y.Liao H.-C.Ho H.-J.Lai C.-J.Chiang C.-C.Lin N.-C.Yang C.-F.WUH-LIANG HWUNI-CHUNG LEELin S.-P.Liu C.-S.REY-HENG HUMING-CHIH HONiu D.-M.2020-02-192020-02-1920191750-1172https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063781342&doi=10.1186%2fs13023-019-1045-1&partnerID=40&md5=7230488435ec1820bf41ef9977f113c2https://scholars.lib.ntu.edu.tw/handle/123456789/461589Background: Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiwan from January, 2000 and data was collected until December, 2016. Results: During the study period, 3,155,263 newborns were screened. The overall incidence of MMA mutase type cases was 1/121,356 (n = 26), 1 cobalamin B was detected and that for PA cases (n = 4) was 1/788,816. The time of referral is 8.8 days for MMA patients, and 7.5 days for PA patients. The MMA mutase type patients have higher AST, ALT, and NH 3 values as well as a lower pH value (p < 0.05). The mean age for liver transplantation (LT) is 402 days (range from 0.6-6.7 yr) with 16 out of 20 cases (80.0%) using living donors. The mean admission length shortened from 90.6 days/year (pre-LT) to 5.3 days/year (at 3rd year post-LT) (p < 0.0005). Similarly, the tube feeding ratio decreased from 67.8 to 0.50% (p < 0.00005). The anxiety level of the caregiver was reduced from 33.4 to 27.2 after LT (p = 0.001) and the DQ/IQ performance of the patients was improved after LT from 50 to 60.1 (p = 0.07). Conclusion: MMA/PA patients with LT do survive and have reduced admission time, reduced tube feeding and the caregiver is less anxious. ? 2019 The Author(s).[SDGs]SDG3acetylcarnitine; alanine aminotransferase; ammonia; aspartate aminotransferase; cobalamin; cobalamin B; methylmalonyl coenzyme A mutase; propionylcarnitine; unclassified drug; alanine aminotransferase blood level; anxiety; Article; aspartate aminotransferase blood level; biochemical analysis; caregiver burden; child; clinical article; comparative study; controlled study; development; developmental quotient; enteric feeding; female; functional assessment; human; infant; intelligence quotient; length of stay; liver transplantation; living donor; male; methylmalonic acidemia; newborn; newborn screening; outcome assessment; patient referral; pH; propionic acidemia; school child; survival rate; Taiwan; caregiver; disorders of amino acid and protein metabolism; genetics; hospitalization; liver transplantation; mortality; mutation; pathophysiology; propionic acidemia; psychology; treatment outcome; Amino Acid Metabolism, Inborn Errors; Caregivers; Enteral Nutrition; Female; Hospitalization; Humans; Infant, Newborn; Liver Transplantation; Male; Mutation; Neonatal Screening; Propionic Acidemia; Taiwan; Treatment Outcomejournal article10.1186/s13023-019-1045-1309401962-s2.0-85063781342