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

Tzu-Hung Chu,
Yin-Hsiu Chien,
Hsiang-Yu Lin,
Hsuan-Chieh Liao,
Huey-Jane Ho,
Chih-Jou Lai,
Chuan-Chi Chiang,
Niang-Cheng Lin,
Chia-Feng Yang,
Wuh-Liang Hwu,
Ni-Chung Lee,
Shuan-Pei Lin,
Chin-Su Liu,
Rey-Heng Hu,
Ming-Chih Ho and
Dau-Ming NiuEmail author View ORCID ID profile

Orphanet Journal of Rare Diseases201914:73

https://doi.org/10.1186/s13023-019-1045-1

Received: 2 January 2018
Accepted: 12 March 2019
Published: 2 April 2019

Abstract

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 Bwas 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 NH3 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).