Glycogen Storage Disease - Types

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

Famous quotes containing the word types:

    “The rank and file have let their servants become their masters and dictators.... Provision should be made in all union constitutions for the recall of leaders. Big salaries should not be paid. Career hunters should be driven out, as well as leaders who use labor for political ends. These types are menaces to the advancement of labor.”
    —Mother Jones (1830–1930)

    “He’s one of those know-it-all types that, if you flatter the wig off him, he chatter like a goony bird at mating time.”
    —Michael Blankfort. Lewis Milestone. Johnson (Reginald Gardner)

    “As for types like my own, obscurely motivated by the conviction that our existence was worthless if we didn’t make a turning point of it, we were assigned to the humanities, to poetry, philosophy, painting—the nursery games of humankind, which had to be left behind when the age of science began. The humanities would be called upon to choose a wallpaper for the crypt, as the end drew near.”
    —Saul Bellow (b. 1915)