Glycogen Storage Diseases

Card Set Information

Author:
spidrmnky
ID:
29737
Filename:
Glycogen Storage Diseases
Updated:
2010-08-12 17:29:57
Tags:
Glycogen storage
Folders:

Description:
Glycogen Storage Diseases
Show Answers:

Home > Flashcards > Print Preview

The flashcards below were created by user spidrmnky on FreezingBlue Flashcards. What would you like to do?


  1. Type I:
    von Gierke
    Glucose-6-phosphatase (Glucose 6-P --> Glucose)

    Severe hypoglycemia, lactic acidosis, hepatomegaly, hyperlipidemia, hyperuricemia, short stature

    Normal Glycogen structure, just trapped in the liver

    Giving Galactose or Fructose cause no increase in blood glucose, nor does administration of glucagon or EPI
  2. Type II:
    Pompe
    Lysosomal Alpha-1,4-glucosidase deficiency (normally digests glycogen-like material in endosomes)

    DEATH by 2 years, cardiomegaly (usual COD), muscle weakness

    Glycogen-like material in inclusion bodies that should have been degraded in tissues that normally have glycogen stores
  3. Type III:
    Cori
    Glycogen debranching enzyme deficiency

    Mild hypoglycemia, liver enlargement

    Short outer branches, Single glucose residue at outer branch
  4. Type IV:
    Andersen
    Branching enzyme deficiency

    DEATH by 2 yo, infantile hypotornia, cirrhosis

    Very few branches, especially toward periphery
  5. Type V:
    McArdle
    Muscle glycogen phosphorylase deficiency (Glycogen --> Glucose 1-P)

    Muscel cramps and weakness on exercise

    Normal Glycogen structure
  6. Type VI:
    Hers
    Hepatic glycogen phosphorylase (Glycogen --> Glucose 1-P)

    Mild fasting hypoglycemia, hepatomegaly, cirrhosis

    Normal Glycogen structure

    Gluconeogenesis compensates, hepatomagaly and growth retardation may be present in early childhood, although hepatomegaly may improve with age

What would you like to do?

Home > Flashcards > Print Preview