Table 4.
Comparison of patient characteristics from previous reported cases.
| Saneifard et al. (2020) | Düzenli Kar et al. (2018) | Wei et al. (2019) | |
|---|---|---|---|
| Presenting symptoms | Increased respiratory rate, hepatomegaly, recurrent fever, poor feeding, prolonged diarrhea | Increased respiratory rate, hepatomegaly, fever, decreased blood pressure | Recurrent fever, icteric sclera, hepatosplenomegaly |
| Consanguinity of parents | Consanguineous | Consanguineous | Not reported |
| Patient's age | 5 months | 5 months | 11 months |
| Duration of symptoms | 2 months | 3 days | 2 months |
| Liver function tests | Elevated | Elevated | Elevated |
| TG level | Elevated | Elevated | Not reported |
| Hypoglycemia | Positive | Positive | Not reported |
| Bicytopenia | Positive | Positive | Positive |
| Fibrinogen level | Decreased | Decreased | Decreased |
| Ferritin level | Elevated | Elevated | Elevated |
| LDH level | Elevated | Elevated | Elevated |
| Metabolic acidosis | Yes | Yes | Not reported |
| Genetic study | p.(Arg83Cys) (c.247C > T) mutation in the G6PC gene (homozygote) |
p.(Arg83Cys) (c.247C > T) mutation in the G6PC gene (homozygote) |
p.(Asp941Asn) (c.2821G > A) mutation in the UNC13D gene (heterozygous) |