Number | Enzyme deficiency | Eponym | Hepato megaly | Muscle symptoms | Develop- ment/ prognosis | Other symptoms |
GSD type I | glucose-6- phosphatase | von Gierke's disease | Yes | None | Growth failure | Lactic acidosis, hyperuri- cemia |
GSD type II | acid maltase | Pompe's disease | Yes | Muscle weakness | Death by 2 years (infantile variant) | heart failure |
GSD type III | glycogen debrancher | Cori's disease or Forbes' disease | Yes | Myopathy | ||
GSD type IV | glycogen branching enzyme | Andersen disease | Yes, also cirrhosis | None | Failure to thrive, death at ~5 years | |
GSD type V | muscle glycogen phospho-rylase | McArdle disease | No | Exercise induced cramps Rhabdo-myolysis | Renal failure by myoglobin- uria | |
GSD type VI | Liver -glycogen phospho-rylase | Hers' disease | Yes | None | ||
GSD type VII | muscle phospho- fructokinase | Tarui's disease | No | Exercise- induced muscle cramps and weakness | growth retardation | Haemo-lytic anaemia |
GSD type IX | Phospho-rylase kinase, PHKA 2 | – | No | None | Delayed motor develop-ment, Growth retarda- tion | |
GSD type XI | glucose transporter, GLUT 2 | Fanconi- Bickel syndrome | Yes | None |
- Hyperlipidemia is seen in GSD Type I,III and IX.
- Hypoglycemia is seen in GSD Type I,III,VI,XI.
