[Characteristics of a case of hepatic fructose-1,6-diphosphatase deficiency].
The authors report a new case of hepatic fructose-1.6-diphosphatase deficiency, diagnosed in a 14 month-old girl on the occasion of an episode of prostration associated with acidosis, hyperlactacidemia and hypoglycemia without hepatomegaly. The unusual features of this case, especially the glucagon induced hyperglycemia after a 12 hour fast, emphasize the clinical and biological polymorphism of this enzymopathy.
D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology*
Quelques particularités d'une observation de déficit en fructose-1,6-diphosphatase hépatique.