Glycogen storage disease type 1 (von Gierke)
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An infant with hepatomegaly has severe hypoglycemia not responding to glucagon. Labs show lactic acidosis, hyperuricemia, and hyperlipidemia.
AR
- Type 1a: G6PC (glucose-6-phosphatase)
- Type 1b: SLC37A4 (G6P transporter) - also has neutropenia
- Severe fasting hypoglycemia
- Hepatomegaly (massive), nephromegaly
- Lactic acidosis, hyperuricemia, hyperlipidemia
- "Doll-like" face
- Hepatic adenomas (long-term)
- Type 1b: Neutropenia, IBD-like symptoms
- Not on RUSP; suspected from hepatomegaly with fasting hypoglycemia
- Characteristic biochemistry: lactic acidosis, hyperuricemia, hyperlipidemia; hypoglycemia fails to respond to glucagon
- Confirmation: biallelic variants in G6PC (type 1a) or SLC37A4 (type 1b); enzyme assay on liver tissue is rarely needed now
- Frequent feedings, cornstarch, G-CSF (type 1b)
GSD Type 1 = "1iver" only: primarily liver and kidney (2 words in "Von Gierke," so 2 organs). No myopathy (unlike other GSDs). T1 is the #1 most common GSD (~90%).
"FAN-C" building blocks: when Carbs are out (GSD T1), catabolism of the other 3 building blocks goes up: increased Fats/triglycerides, increased uric Acid (from Nucleic acid breakdown), and increased laCtate (accumulated glucose-6-phosphate shunted into glycolysis).
GSD1b has a "bonus": neutropenia. Blood cell counts are low and inflammatory bowel disease occurs in type 1b.