(3.2) GSDs, Galactosemia, Fructosuria

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Last updated 8:58 AM on 5/9/26
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10 Terms

1
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I - Von Gierke

  • Type: __________

  • Defective enzyme: Glucose 6-phosphatase or transport system

  • Organ affected: Liver and kidney

  • Glycogen in the affected organ: Increased amount; normal structure.

  • Clinical features: Massive enlargement of the liver. Failure to thrive. Severe hypoglycemia, ketosis, hyperuricemia, and hyperlipemia.

2
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II - Pompe

  • Type: __________

  • Defective enzyme: α-1,4-Glucosidase (lysosomal)

  • Organ affected: All organs

  • Glycogen in the affected organ: Massive increase in amount; normal structure.

  • Clinical features: Cardiorespiratory failure causes death, usually before age 2.

3
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III - Cori

  • Type: __________

  • Defective enzyme: Amylo-1,6-glucosidase (debranching enzyme)

  • Organ affected: Muscle and liver

  • Glycogen in the affected organ: Increased amount; short outer branches.

  • Clinical features: Like type I, but milder course.

4
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IV - Andersen

  • Type: __________

  • Defective enzyme: Branching enzyme (α-1,4 → α-1,6)

  • Organ affected: Liver and spleen

  • Glycogen in the affected organ: Normal amount; very long outer branches.

  • Clinical features: Progressive cirrhosis of the liver. Liver failure causes death, usually before age 2.

5
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V - McArdle

  • Type: __________

  • Defective enzyme: Phosphorylase

  • Organ affected: Muscle

  • Glycogen in the affected organ: Moderately increased amount; normal structure.

  • Clinical features: Limited ability to perform strenuous exercise because of painful muscle cramps. Otherwise patient is normal and well developed.

6
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VI - Hers

  • Type: __________

  • Defective enzyme: Phosphorylase

  • Organ affected: Liver

  • Glycogen in the affected organ: Increased amount.

  • Clinical features: Like type I, but milder course.

7
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VII

  • Type: __________

  • Defective enzyme: Phosphofructokinase

  • Organ affected: Muscle

  • Glycogen in the affected organ: Increased amount; normal structure.

  • Clinical features: Like type V.

8
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VIII

  • Type: __________

  • Defective enzyme: Phosphorylase kinase

  • Organ affected: Liver

  • Glycogen in the affected organ: Increased amount; normal structure.

  • Clinical features: Mild liver enlargement. Mild hypoglycemia.

9
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Galactose-1-phosphate uridyl transferase deficiency

Galactosemia

10
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Fructose-1-phosphate aldolase deficiency

Fructosuria