Enzyme deficiency | Lactic acid | Uric acid | Ketosis | Serum lipids | Response to glucagon | Clinical features |
Glycogen synthase (GSD 0) | ↑* | ↑ | + | ↑ | ↓ | Normal liver size |
Neonatal onset | ||||||
Severe fasting hypoglycemia, but postprandial hyperglycemia and lactic acidosis | ||||||
Glucose-6-phosphatase (GSD I) | ↑ | ↑ | + | ↑ | ↓ | Hepatomegaly |
Neonatal onset | ||||||
Severe fasting hypoglycemia | ||||||
Some patients have neutropenia, platelet dysfunction, kidney disease, or hypertension | ||||||
Glycogen debrancher (GSD III) | Normal or ↑ | Normal | + | Normal or ↑ | Normal 2 hours after glucose meal, but absent after fast | Hepatomegaly |
Onset in infancy | ||||||
Mild fasting hypoglycemia | ||||||
May have cardiac or skeletal muscle manifestations (eg, elevated CK) | ||||||
May have elevated RBC glycogen | ||||||
Hepatic phosphorylase (GSD VI) | Normal | Normal | + | Normal or ↑ | Usually normal, but variable | Hepatomegaly |
Onset in early childhood | ||||||
Mild fasting hypoglycemia | ||||||
Hepatic phosphorylase b kinase | Normal | Normal or ↑ | + | Normal or ↑ | Normal | Hepatomegaly |
Onset in early childhood | ||||||
Mild fasting hypoglycemia | ||||||
X-linked inheritance |
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