Table 1.

Typical features of Fanconi-Bickel syndrome (FBS) and summary of clinical findings in patient 1–5. (* previously reported [6]); oGTT, oral glucose tolerance test.

Typical Findings in FBS	Patient 1 * (19 y)	Patient 2 * (13 y)	Patient 3 (17 y)	Patient 4 (2 y)	Patient 5 (29 y)
Hepatomegaly	absent	absent	absent	absent	absent
Fasting hypoglycemia	absent	absent	absent	absent	absent
Postprandial hyperglycemia	normal oGTT but intermittend postprandial hyperglycemia at time of diagnosis, HbA1c within normal range	absent HbA1c within normal range	normal oGTT but intermittend postprandial hyperglycemia	absent HbA1c within normal range	absent HbA1c within normal range
Galactose intolerance	yes	yes	yes	yes	yes galactosemia and galactosuria during childhood, only galactosuria in adulthood
Nephromegaly	absent	absent	absent	absent	absent
Proteinuria	very mild or absent	very mild or absent	absent	very mild	absent
Glucosuria massive (often >100 g/1.73 m2/d)	yes no 23.6	yes no 34.1	yes no 1.0	yes no 11–23 (g/L)	yes no 5 (g/L)
Hyperaminoaciduria	absent	absent	absent	yes	absent
Hyperphosphaturia	absent	absent	absent	absent	absent
Rickets	absent	absent	absent	absent	absent