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Table 7 Functional assessment (DQ/IQ) of isolated MMA and PA patients, according to diagnosis before/after the initiation of NBS; and whether or not received LT

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

 

Before era of NBS

After era of NBS

Overall

LT (+)

59.7 ± 15.3 (43–73, n = 3)

59.9 ± 17.9 (33–90, n = 11)

59.9 ± 16.8 (n = 14)

LT(−)

26

50 (50,50)

42 (n = 3)

  1. Seventeen patients had at least 1 DQ/IQ assessment. In this table, isolated MMA (12 patients) and 2 PA patients were analyzed as a whole. Before era of NBS, 3 MMA cases underwent LT and they were assessed at age 11 ± 3.6 (yr). In contrast, 9 MMA and 2 PA patients underwent LT after the introduction of NBS. They were assessed at age 5.9 ± 3.6 (yr). Only 3 MMA (including 1 before NBS) did not receive LT. Two of them received DQ/IQ assessment at 9.5 and 10.2 (yr). The only one MMA LT(−) case born before NBS received DQ/IQ test at 3.6 yr. and expired 1 month afterwards. The DQ/IQ difference of LT(+)/LT(−) does not reach significance (p = 0.11)
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172