Essential fructosuria: increased levels of fructose 3-phosphate in erythrocytes.
Erythrocytes of 3 adult siblings with essential fructosuria contained 45-200 mumol/l fructose 3-phosphate (Fru-3-P), i.e. 3-15 times the concentration in normal controls. Sorbitol 3-phosphate was also increased, but to a lesser degree. An oral load with 50 g of fructose produced an additional 40 mumol/l increase of erythrocyte Fru-3-P after 5 h. The rate of Fru-3-P formation by red cells in vitro was normal. HbA1 and HbA1c were normal. The suspected pathogenetic role of Fru-3-P in diabetic complications is questioned.
Petersen
A
A
Department of Clinical Biochemistry, State University Hospital (Rigshospitalet), Copenhagen, Denmark.
Steinmann
B
B
Gitzelmann
R
R
D000328:Adult; D015415:Biomarkers / Q000097:blood / Q000652:urine; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood* / Q000652:urine*; D004912:Erythrocytes / Q000378:metabolism*; D005632:Fructose / Q000652:urine*; D005636:Fructosephosphates / Q000097:blood*; D006442:Glycated Hemoglobin / Q000032:analysis; D006801:Humans; D012016:Reference Values
D015415:Biomarkers; D005632:Fructose; D005636:Fructosephosphates; D006442:Glycated Hemoglobin; C062519:fructose 3-phosphate