Table 4 Summary of the clinical features and genotypes of the patients with propionic acidemi
Patient NO | Gender | Mutations | Onset Diagnosis | Current age | Outcome | |
|---|---|---|---|---|---|---|
Paternal | Maternal | |||||
PCCA | ||||||
1 | M | c.2002G > A(p.G668R) | c.1288C > T(p.R430X) | 21d | Died at 6.5 m | Epilepsy, possible cardiomyopathy |
2 | F | c.1426C > T(p.R476X) | c.1426C > T(p.R476X) | 1 mon | 3 y | Mild mental retardation, normal growth |
PCCB | ||||||
3 | M | c.359_360delAT (p.Y120Cfs*40) | c.1398 + 1G > A | 3d | 5y | Moderate mental retardation, epilepsy, growth failure |