Table 1.

Phenotypic heterogeneity in patients with Fanconi–Bickel syndrome (FBS) with homozygous p.Gly318Arg mutation in SLC2A2

Sex; country [ref]	Birth weight, gestation	Features of FBS	Unique features	Age at onset	Status at follow-up
Girl; Italy [3, 14]	NA	Increased liver glycogen content, hepatomegaly	Cataracts	Reported at 13 years	NA
Boy; USA [3, 13]	NA	Growth retardation, hepatomegaly, rickets, fasting hypoglycemia, proximal RTA, hypophosphatemia, hypouricemia	Microalbuminuria, glomerular hyperfiltration and diffuse mesangial expansion	3 years	Wheelchair bound by 8  years (severe rickets)
Boy; Indiaa,b (present case)	2.4 kg 40 weeks	Growth retardation, polyuria, hepatomegaly	None	3 months	Expired at 4  months
Girl; Indiaa,b (present case)	2.8 kg 40 weeks	Growth retardation, rickets, hepatomegaly, fasting hypoglycemia, proximal RTA, phosphaturia, generalized aminoaciduria, glucosuria, hypercalciuria	None	4 months	Expired at 6 years
Girl Indiaa (present case)	2.3 kg 40 weeks	Hepatomegaly, phosphaturia, hypercalciuria, aminoaciduria, proximal RTA	Transient neonatal diabetes mellites from day 3	2 weeks; subtle features day 3	Presently 6 months

NA not available; RTA renal tubular acidosis

^aSiblings of a non-consanguineous marriage

^bGenetic testing not done, presumed to have similar mutation as sibling; both parents heterozygous carriers