Type Ia Glycogen Storage Disease Workup

Updated: Jul 07, 2021
  • Author: Kathleen R Ruddiman, DO; Chief Editor: George T Griffing, MD  more...
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Laboratory Studies


The diagnosis can be established with genetic sequencing, and targeted mutation analysis is also available. [12]

A liver biopsy can be tested for G6Pase activity level, and liver histology usually reveals increased glycogen and lipid content.  [13]

Additional assessment

Patients should have readily available glucometry to assess for hypoglycemia, a hallmark feature of GSD Ia.  Blood glucose levels should also be assessed during the initial workup.

The lactic acid level is often more elevated in GSD Ia than in other GSDs, which may help narrow down the diagnosis. Patients should have a complete metabolic panel to assess kidney function and liver function, given the prevalence of renal and hepatic pathology related with GSD Ia.

Hyperlipidemia is found in GSD Ia, although there is no clear evidence of increased atherosclerosis. [14]   A lipid panel should be assessed. Laboratory abnormalities also include hyperuricemia, hyperlactacidemia, hyperlipidemia, and hypercalciuria.

Vitamin D deficiency is a well known complication of GSD Ia and may also result in osteoporosis. [15] It is prudent to check vitamin D levels, and if suspected, assessment for osteoporosis may be indicated. 

Normochromic anemia has been documented as well; a complete blood cell count should be assessed. Measuring lipase and amylase may be justified in suspected cases of pancreatitis.


Imaging Studies and Histologic Findings

Imaging studies

Imaging often shows hepatomegaly and may reveal hepatic adenoma. Bone densitometry in older individuals may show low bone mass. Renal ultrasonography may show enlarged kidneys.

In a study to determine how well contrast-enhanced ultrasonographic scans can characterize focal liver lesions in patients with GSD type Ia, Nguyen et al examined images from 8 benign hepatic adenomas associated with the disease. [16]  The scans revealed marked hypervascularity in all of the lesions during the early arterial phase, with most of the lesions showing sustained enhancement in the portal and late phases.

Histologic findings

Biopsy of the kidney may reveal focal glomerulosclerosis. Liver histology usually reveals increased glycogen and lipid content. [13]