Table 1.
Patient characteristics and demographics prior to initiating long-term NCG treatment at the University Hospital of Padova.
| Patient | Sex | Diagnosis | Age (years) | Age at diagnosis (years) | Genetics | Neurological impairment (mental retardation/dystonia) | Renal damage | Pancreatitis | Heart disease | Protein intake (g/kg/day) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | PA | 20 | Neonatal | c.1111C > T (p.Q3 71X) / c.1625–1628delT (p.Q544fs) | +/− | − | No | Dilated CMP | 1.0 |
| 2 | F | PA | 11 | Neonatal | c.937C > T (p.R313X) / nf | +/− | − | No | Dilated CMP | 1.3 |
| 3 | M | PA | 9 | Neonatal | c.937C > T (p.R313X) / nf | ++/++ | − | No | No | 1.1 |
| 4 | M | PA | 3 | Neonatal | c.69_78del (p.Gln23Hisfs*2) / c.1788G > A (p.Trp596*) | ++/− | − | No | No | 1.5 |
| 5 | F | MMA Mut0 | 12 | Neonatal | c.643G > A (p.G215S) / c.2179C > T (p.R727X) | −/− | ++ | No | No | 1.4 |
| 6 | F | MMA Mut0 | 6 | 11 months | c.1844C > T (p.P615L) / c.1844C > T (p.P615L) | +/++ | ++ | Yes | No | 1.3 |
| 7 | M | MMA Mut- | 2 | Neonatal | c.655A > T (p.N219Y) / c.2197del4ins5 (p.A732WfsX5) | −/− | + | No | No | 1.0 |
| 8 | F | MMA Mut0 | 12 | Neonatal | c.1844C > T (p. P615L) / c.1953T > C (p. L618P) | −/++ | ++ | Yes | No | 1.1 |
+ = mild; ++ = severe; CMP, cardiomyopathy; MMA, methylmalonic aciduria; NCG, N-carbamylglutamate; PA, propionic aciduria; nf, not found.