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 bourgeoisie loves so-called “positive” types and novels with happy endings since they lull one into thinking that it is fine to simultaneously acquire capital and maintain one’s innocence, to be a beast and still be happy.”
    —Anton Pavlovich Chekhov (1860–1904)

    “The American man is a very simple and cheap mechanism. The American woman I find a complicated and expensive one. Contrasts of feminine types are possible. I am not absolutely sure that there is more than one American man.”
    —Henry Brooks Adams (1838–1918)

    “Our children evaluate themselves based on the opinions we have of them. When we use harsh words, biting comments, and a sarcastic tone of voice, we plant the seeds of self-doubt in their developing minds.... Children who receive a steady diet of these types of messages end up feeling powerless, inadequate, and unimportant. They start to believe that they are bad, and that they can never do enough.”
    —Stephanie Martson (20th century)