Article
[Hepatic glycogen synthetase deficiency or glycogen storage disease-zero. Mild phenotype with partial enzymatic defect].
Medicina - 1 Jan 1990
de Kremer R D, de Capra A P, de Boldini C D, Hliba E, Givogri I
Abstract excerpt
Since the original description 26 years ago, of the hepatic glycogen synthetase deficiency, only one more case was reported in 1977. We present the studies carried out on an Argentine boy of Italian ancestry who at age 21 months, showed signs of hepatic deficiency with mild clinical symptoms whic...
Topics
- Biopsy
- Child, Preschool
- Fructose
- Glucagon
- Glycogen Storage Disease
- Glycogen Synthase
- Humans
- Liver
- Male
- Phenotype