[Hypoglycemia and hyperlactacidemia in relation with a new case of fructose-1,6-diphosphatase deficiency. Determination of enzymatic activity in leukocytes].
A 11.5 month-old girl with recurrent episodes of hypoglycemia and lactic acidosis was identified as having fructose-1,6-diphosphatase deficiency. The diagnosis may be realised with a simple way by an oral fructose tolerance test and the activity dosage of this enzyme in white blood cells. The fructose and sucrose-free diet and avoidance of prolonged fasting resulted in a decrease of hepatomegaly and normal values of lactate between the episodes.
D005260:Female; D005632:Fructose / Q000378:metabolism; D015319:Fructose-1,6-Diphosphatase Deficiency; D006597:Fructose-Bisphosphatase / Q000097:blood; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology*; D007223:Infant; D007773:Lactates / Q000097:blood*; D007962:Leukocytes / Q000201:enzymology*
D007773:Lactates; D005632:Fructose; D006597:Fructose-Bisphosphatase
Hypoglycémie et hyperlactacidémie en rapport avec un nouveau cas de déficit en fructose-1,6-diphosphatase. Détermination de l'activité enzymatique dans les leucocytes.