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

	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)

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)