Laboratory Studies

Diagnostics

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

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]

Treatment & Management

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Metabolic pathways of carbohydrates

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Author

Kathleen R Ruddiman, DO Fellow Physician, Department of Endocrinology, Atrium Health Wake Forest Baptist Medical Center

Disclosure: Nothing to disclose.

Coauthor(s)

Catherine Anastasopoulou, MD, PhD, FACE Associate Professor of Medicine, The Steven, Daniel and Douglas Altman Chair of Endocrinology, Sidney Kimmel Medical College of Thomas Jefferson University; Einstein Endocrine Associates, Einstein Medical Center

Catherine Anastasopoulou, MD, PhD, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists, American Society for Bone and Mineral Research, Endocrine Society, Philadelphia Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kent Wehmeier, MD Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine

Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for Physician Leadership, American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society, International Society for Clinical Densitometry, Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

Additional Contributors

Wayne E Anderson, DO, FAHS, FAAN Assistant Professor of Internal Medicine/Neurology, College of Osteopathic Medicine of the Pacific Western University of Health Sciences; Clinical Faculty in Family Medicine, Touro University College of Osteopathic Medicine; Clinical Instructor, Departments of Neurology and Pain Management, California Pacific Medical Center

Wayne E Anderson, DO, FAHS, FAAN is a member of the following medical societies: American Academy of Neurology, American Headache Society, California Medical Association, California Neurology Society, International Headache Society, San Francisco Medical Society, San Francisco Neurological Society

Disclosure: Nothing to disclose.