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Background  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.

orphanet journal of rare diseases

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups