Overview:

• Synonyms: von Gierke’s disease, Type I Glycogenosis, Hepatorenal Glycogenosis
• Incidence: ~1 in 100,000 live births; ~25% of GSD cases in the US and Europe
• Cause: Deficiency in enzymes needed to release glucose from glycogen in the liver

Subtypes: 

Presenting Symptoms:

Hypoglycemia, enlarged liver (hepatomegaly), hypoglycemia, irritability, lethargy in the first 6-9 months of life, respiratory distress (from elevated lactate concentrations)

Diagnosis:

• Hypoglycemia in the setting of elevated lactate, triglycerides, and uric acid
• Imaging (enlarged liver and kidneys)
• Genetic testing: identification of mutations in the G6Pase or G6PT gene
• Liver biopsy is rarely required

Treatment:

• A team with expertise in GSD is highly recommended
• Frequent glucose monitoring or continuous glucose monitoring is recommended
• Frequent feedings every 2 hours until cornstarch has been initiated; continuous feeds may be used
• Uncooked cornstarch for slow glucose release beginning at 6-12 months
• Diet restrictions: Avoid fructose, galactose, sucrose, lactose
• Supplement with multivitamins and calcium
• Empagliflozin may help treat neutropenia and G-CSF for neutropenia in GSD Ib
• Citrate therapy (Urocit-K) may prevent kidney stones
• ACE inhibitors have been found to be beneficial if proteinuria develops

Complications:

With good metabolic control, most if not all complications are preventable.  Potential complications include:

• Liver: Benign adenomas (may rarely become cancerous)
• Kidneys: Proteinuria, hypertension, kidney stones, kidney dysfunction
• Others: Osteopenia, fractures, pulmonary hypertension

Prognosis:

• With early diagnosis and proper management, many individuals live healthy, long lives.
• Long-term complications may still occur, and it is important to strive for triglycerides under 300 mg/dL, normal lactate concentrations, and normal hepatic transaminase elevation.
• Alcohol and growth hormone should be avoided