Table 1 Outcome in EE patients treated by liver transplantation compared to medical therapies (follow-up ≥ 1 year)
Reference | Genotype | Age at onset | Phenotype | Age at last follow-up | Liver Transplant age | Low protein diet start–end | NAC therapy start–end | MTZ Therapy start–end | EMA baseline/follow-up | Reported outcome at follow-up |
|---|---|---|---|---|---|---|---|---|---|---|
Present Case | c.131_132delAG/131_132delAG | 7 m | Severe | 7 y | 9 m | 7 m–ongoing | 7 m–21 m | 205/40 | Disease stabilization, achievement of cognitive and social skills (says few words, sits unaided), persistence of diarrhea and skin signs, MRI improvement of atrophy | |
[28] | del exon 4/del exon 4 | NBS | Severe | 2.3 y | 19 m | 13 m–ongoing | 13 m–ongoing | Improvement of social and language skills, sits unaided, babbling | ||
[28] | c.487C>T/c.487C>T | NBS | Severe | 2.9 y | 13 m | 2 m–ongoing | 2 m–ongoing | 153/31 | Seven months after transplant episode of metabolic decompensation, then slow improvements in motor, verbal and social skills (sit unaided, says few simple words) | |
[29] | c.375 + 5G>A/c.462 T>A | 1 m | Severe | 3.2 y | 18 m | 15 m–18 m | 15–20 m | 179/70.7 | No remarkable general amelioration, disease stabilization, quadriplegia, achievement of few words, head control, persistence of skin signs and diarrhea, MRI stabilization | |
[11] | c.131_132delAG/c.566delG | NBS | Severe | 2.1 y | 8 m–ongoing | 1.5 m–ongoing | 1.5 m–ongoing | 617.7/383.9 | Slow developments in motor and verbal skills, sits unaided, says few words, mild skin signs, no diarrhea | |
[32] | c.448G>A/c.448G>A | 10 m | Severe | 2.5 y | 15 m–ongoing | 15 m–ongoing | 15 m–ongoing | Disease stabilization, psychomotor achievements, says simple words, walks with aid | ||
[11] | c.505 + 1G>A/c.505 + 1G>A | NBS | Severe | 2.1 y | 2 m–ongoing | 2 m–ongoing | 586/352.2 | Sits unaided, poor growth, diffuse skin signs, non-verbal achievement, good visual attention, no diarrhea | ||
[15] | c.79C>A/c.79C>A | 10 y | Mild | 19 y | 16 y–ongoing | 16 y–ongoing | 72/74 | Improvement of mobility and speech, at 17 years episode of acute decompensation with seizures followed by regain of functionalities | ||
[31] | c.3G>T/c.3G>T | 5 y | Mild | 15 y | 11 y–ongoing | 11 y–ongoing | 46/24 | Improved diarrhea and QoL, worsening of paraparesis, normal IQ, normal MRI |