TY - JOUR
T1 - Fructose-1,6-Diphosphatase Deficiency
AU - Hopwood, Nancy J.
AU - Holzman, Ian
AU - Drash, Allan L.
PY - 1977/4
Y1 - 1977/4
N2 - A girl aged 3 years and 11 months, with recurrent episodes of unexplained metabolic acidosis, hepatomegaly, and fasting hypoglycemia unresponsive to glucagon, showed profound falls in blood glucose levels in response to oral fructose and glycerol challenge. In vitro analysis of her hepatic glycolytic and gluconeogenic enzymes demonstrated absent fructose-1,6-diphosphatase activity. A therapeutic trial of orally given folic acid, 30 mg daily, did not improve her tolerance for fructose and glycerol. Over the next two years she showed improvement in tolerance to fasting, and to fructose and glycerol loading on dietary management.
AB - A girl aged 3 years and 11 months, with recurrent episodes of unexplained metabolic acidosis, hepatomegaly, and fasting hypoglycemia unresponsive to glucagon, showed profound falls in blood glucose levels in response to oral fructose and glycerol challenge. In vitro analysis of her hepatic glycolytic and gluconeogenic enzymes demonstrated absent fructose-1,6-diphosphatase activity. A therapeutic trial of orally given folic acid, 30 mg daily, did not improve her tolerance for fructose and glycerol. Over the next two years she showed improvement in tolerance to fasting, and to fructose and glycerol loading on dietary management.
UR - http://www.scopus.com/inward/record.url?scp=0017389171&partnerID=8YFLogxK
U2 - 10.1001/archpedi.1977.02120170044009
DO - 10.1001/archpedi.1977.02120170044009
M3 - Article
C2 - 192069
AN - SCOPUS:0017389171
SN - 0096-8994
VL - 131
SP - 418
EP - 421
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
IS - 4
ER -