Table 1 Clinical baseline data and genetic features of the 3 patients with GSD type Ib
Patient 1 | Patient 2 | Patient 3 | |
|---|---|---|---|
Clinical baseline data | |||
Gender | Female | Male | Female |
Age of onset (months) | 1 | 8 | 30 |
Age at clinical diagnosis (months) | 15 | 42 | 36 |
Course (months) | 14 | 34 | 6 |
Age at genetic diagnosis (years) | 12 | 13 | 11 |
Chief complaint | Abdominal distension | Upper respiratory tract infection, hepatomegaly | Short stature, hepatomegaly |
Liver biopsy | PAS ( +) | PAS ( +) | PAS ( +) |
Epinephrine tolerance test | Positive | Positive | Positive |
Genotypes | |||
Base change | c.[1016G > A];[572C > T] | c.[572C > T]; [343G > A] | c.[870 + 5G > A];[680G > A] |
Amino change | p.[G339D];[P191L] | p.[P191L];[G115R] | splicing; W227* |
Exon | 10;6 | 6;10 | 7;7 |
Novel | − / − | − / − | − /Our first report |