Table 1.
Outcomes of LT/CKLT for patients with MMA.
| References | Age at Tx | Procedure | Follow-up | Metabolic decompensation/crisis time | MMA level (P/CSF: nmol/mL U: μmol/mmol Cr) | Dietary protein (g/kg/d) | Neurological damage/ DQ | Renal dysfunction (eGFR:mL/min/1.73 m2 | Developmental delay/SD of height | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pre | Post | Pre | Post | Pre | Post | Pre | Post | Pre | Post | Pre | Post | ||||
| Kaplan et al. (27) |
19 m | OLT | 10 y | Y | Y (only twice) |
P:574 ± 431 | P:220 ± 79 | 1.7 | NA | Increased subarachnoid space | Acute lesion in right globus pallidus, then resolved& |
N | eGFR = 77 | Between the 25th and 50th percentiles | −2SD |
| U:9307 ± 4923 | U:3656 ± 2271 | ||||||||||||||
| CSF: 1103 | CSF:901 ± 263 | ||||||||||||||
| Mc Guire et al. (21) |
5 y | CKLT (OLT) |
10 m | Y | N | P:20–2591 | P:25–525 | 1.95 | NA | Y (cerebellar stroke) | Y | Y | N | Failure to thrive |
NA |
| U:1101–13962 | U:116–1895 | ||||||||||||||
| Chen et al. (19) |
0.9–2.1 y | LDLT (n = 4) |
0.2–7.7 y | 2.73/y | 0.08/y | P:87.5–204 | P:63.2–87 | 0.66–1.00 | 1.37–2.80 | NA | NA | N | N | Development all continued | |
| Morioka et al. (15) Kamei et al. (16) |
7–90 m | LDLT (n = 7) |
19–53 m | Y | N | P:268.0 | P:99.4 | 1.0 | 3.0 | The global cognitive index of the McCarthy scale and the Denver development quotient were improved but did not reach normal values | N | N | −2 | −2 | |
| P:47.0 | P:59.2 | 1.2 | 2.5 | N | N | −2 | −2 | ||||||||
| P:143.0 | P:36.4 | 0.7 | 2.5 | N | N | −3.14 | −2 | ||||||||
| P:39.0 | P:29.3 | 2.0 | 3.0 | N | N | −2 | −1 | ||||||||
| P:375.0 | P:87.8 | 1.0 | 2.5 | N | N | −1.3 | −0.6 | ||||||||
| P:1970.0 | P:232.0 | –# | – | Y | – | – | – | ||||||||
| P:166.0 | P:13.8 | 1.5 | 2.5 | N | N | −3 | −2 | ||||||||
| LDLT (n = 3) | P:278.0 | P:59.6 | NA | NA | NA | NA | N | N | NA | NA | |||||
| P:702.0 | P:124.4 | ||||||||||||||
| P:255.0 | P:8.5 | ||||||||||||||
| Vernon et al. (29) | 28 y | CKLT | 18 m | Y | N | P: 6965 ± 1638 | P:234 ± 100 | Restricted | Not restricted |
Optic neuropathy, leukoencephalopathy | Stable visual function, tremor persists | Y | N | Worsening generalized debility | Able to walk |
| Spada et al. (28) | 3 y | Whole LT | 12 y | Y | N | P: sustained (~80%) and stable reduction | 0.8 | 1.5 | Normal intellectual development | N | Y | NA | NA | ||
| 9 m | Split-LT | 2 y | Y | N | P:124.4 | P:43.5 | 0.8 | 1.8 | Adequate neurologic development | N | N | NA | NA | ||
| Niemi et al. (18) | Mean 8.2 y (0.8–20.7) | LT* (n = 6) CKLT (n = 8) |
Mean 3.25 ± 4.2 y | Y | N | P:1648 ± 1492 | P:305 ± 108 | 1.6 (Natural protein 0.3–1.9) | 1.6 (Natural protein 0.6–1.8) | Maintained neurodevelopmental abilities | Y (n = 8) | N | Present in 12 patients (86%) | Maintained or improved | |
| Khanna et al. (24) | 28 y | OLT (domino donor) | 11 m | Y | N | P:445.9 ± 257.0 | P:333.3 ± 117.7 |
Y | 1.0–1.9 (liberalized) | Increasing neurologic disability | NA | >60 | 51.0 ± 12.1† | Altered gait, and slower speech | NA |
| U:5277 ± 1968 | U:1068 ± 384 | ||||||||||||||
| Sakamoto et al. (20) | 7 y | LDLT (n = 13) | 4–16 y (mean 8.1 y) | 0 | 0 | P: ~75–240 (mean) | P: ~5–170 (mean) | 1.2 | Less | 41 | 53 | N | N | −2.0 | −2.0 |
| 5 y | 3 | 0 | 0.7 | Less | 43 | 48 | N | N | −3.1 | −2.0 | |||||
| 1 y | 3 | 0 | 1.5 | 1.65–1.8 | 49 | 54 | N | N | −3.0 | −2.0 | |||||
| 8 m | 1 | 0 | 1.2 | 1.3 | NA | 32 | N | N | −2.8 | −0.2 | |||||
| 11 m | 3 | 1 | 0.9 | 1.5 | 55 | 48 | N | N | −1.4 | −1.8 | |||||
| 5 y | 5 | 5 | 1.7 | 0.95 | NA | 23 | N | N | −4.3 | −4.4 | |||||
| 10 m | 2 | 0 | 1.5 | 1.0–1.5 | 63 | 55 | N | N | −2.5 | −1.3 | |||||
| 12 m | 2 | 0 | 0.7 | 1.0–1.5 | 57 | 42 | N | N | −2.5 | −1.7 | |||||
| 9 m | 3 | 2 | 1.3 | 1.0 | NA | NA | N | N | −3.2 | −0.6 | |||||
| 8 m | 1 | 0 | 1.3 | 1.2 | NA | NA | N | N | 1.5 | 0.8 | |||||
| 2 y | 3 | 0 | 1.0 | 1.0–1.5 | 60 | 54 | Y | Y※ | −3.6 | −1.9 | |||||
| 2 y | 5 | 1 | 2.0 | 1.0–1.5 | NA | NA | N | N | −3.6 | −3.2 | |||||
| 10 m | 1 | 0 | 1.5 | Not restricted | 70 | NA | N | N | −0.7 | 0.0 | |||||
| Critelli et al. (23) | 6.6 y | Kidney/split liver | 3.1 y | Y | N | P: 745 (mean) | P: 154.9 (mean) | 1.6–2.0 | 1 | NA | NA | 56 | 78 | Mild | NA |
| 21.6 y | CKLT | 1.6 y | Y | N | 1.45–1.75 | 1.0–1.1 | 40 | 70 | Extremely low to borderline | ||||||
| 7.4 y | CKLT | 4.1 y | Y | N | 1.6–2.0 | 1.43 | 66.2 | 142 | Moderate to severe | ||||||
| 15.5 y | CKLT | 11.6 y | Y | N | 1.3 | 0.76–0.95 | 40 | 68§ | Mild | ||||||
| 9.4 y | CKLT | 3.6 y | Y | N | 0.98–1.18 | 1.3–1.5 | 65 | 88 | No formal testing | ||||||
| 1.9 y | OLT | 1 y | Y | N | 0.83 | 1.0–1.2 | 96.8 | 128 | Borderline | ||||||
NA, not available; OLT, orthotopic liver transplantation; LDLT, living donor liver transplantation.
72 days post-transplantation, MRI with diffusion-weighted imaging of brain demonstrated an acute lesion in the right globus pallidus but has never manifested clinical signs of extrapyramidal tract disease. Subsequent MRI 18 months later showed resolution of the basal ganglion lesion.
Died of sepsis on postoperative day 44.
One underwent liver retransplantation because of hepatic artery thrombosis.
The postoperative period was complicated by acute kidney injury. The renal function improved progressively.
Acute renal failure occurred after using contrast medium for endoscopic retrograde cholangiopancreatography.
Underwent a renal biopsy 17 months after CLKT, which showed mild tubulointerstitial injury.