Types
There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)
- GSD type VIII: In the past, considered a distinct condition. Now classified with VI. Has been described as X-linked recessive.
- GSD type X: In the past, considered a distinct condition. Now classified with VI.
| Number | Enzyme deficiency | Eponym | Incidence | Hypo- glycemia? |
Hepato- megaly? |
Hyperlip- idemia? |
Muscle symptoms | Development/ prognosis | Other symptoms | |
| GSD type I | glucose-6-phosphatase | von Gierke's disease | 1 in 50,000- 100,000 births | Yes | Yes | Yes | None | Growth failure | Lactic acidosis, hyperuricemia | |
| GSD type II | acid alpha-glucosidase | Pompe's disease | 1 in 40,000 births | No | Yes | No | Muscle weakness | *Death by age ~2 years (infantile variant) | heart failure | |
| GSD type III | glycogen debranching enzyme | Cori's disease or Forbes' disease | 1 in 100,000 births | Yes | Yes | Yes | Myopathy | |||
| GSD type IV | glycogen branching enzyme | Andersen disease | No | Yes, also cirrhosis |
No | None | Failure to thrive, death at age ~5 years | |||
| GSD type V | muscle glycogen phosphorylase | McArdle disease | 1 in 100,000 | No | No | No | Exercise-induced cramps, Rhabdomyolysis | Renal failure by myoglobinuria | ||
| GSD type VI | liver glycogen phosphorylase | Hers' disease | 1 in 65,000- 85,000 births | Yes | Yes | No | None | |||
| GSD type VII | muscle phosphofructokinase | Tarui's disease | No | No | No | Exercise-induced muscle cramps and weakness | growth retardation | Haemolytic anaemia | ||
| GSD type IX | phosphorylase kinase, PHKA2 | - | Yes | No | Yes | None | Delayed motor development, Growth retardation | |||
| GSD type XI | glucose transporter, GLUT2 | Fanconi-Bickel syndrome | Yes | Yes | No | None | ||||
| GSD type XII | Aldolase A | Red cell aldolase deficiency | ? | ? | ? | Exercise intolerance, cramps | ||||
| GSD type XIII | β-enolase | - | ? | ? | ? | Exercise intolerance, cramps | Increasing intensity of myalgias over decades | Serum CK: Episodic elevations; Reduced with rest | ||
| GSD type 0 | glycogen synthase | - | Yes | No | No | Occasional muscle cramping |
Read more about this topic: Glycogen Storage Disease
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