Table 4.

Recommended Surveillance for Individuals with Glycogen Storage Disease Type I

System/ConcernEvaluationFrequency
Liver disease Serum AST, ALT, albumin, bilirubin, PT/INR, & aPTT to monitor for liver damageEvery 6-12 mos
Liver ultrasound to assess for adenomasEvery 12-24 mos until age 16 yrs
Liver CT, ultrasound, or MRI w/IV contrast to assess liver size; eval for adenomas, evidence of portal hypertension, or features of liver carcinoma (nodules, heterogeneous echogenic shadows) 1, 2
  • Every 6-12 mos beginning at age 16 yrs; earlier in those w/hepatic adenomas
  • Precautions against contrast-assoc kidney injury in those w/signs of kidney involvement
Nutrition/Growth
  • Measurement of length/height, weight; calculation of BMI
  • Eval of bone age if clinically indicated
  • Eval of nutritional status
At each visit
Glucose, lactateEvery 6-12 mos
Osteoporosis Measurement of bone densityEvery 1-2 yrs & as clinically indicated beginning at age 10 yrs
Serum 25-hydroxyvitamin DEvery 12 mos or more frequently as needed
Hyperlipidemia Lipid panelEvery 6-12 mos
Renal disease /
Nephrocalcinosis /
Gout 		Kidney radiograph; renal ultrasound; CT scan of the abdomen/stone protocol for nephrocalcinosisAnnually after age 10 yrs
  • Serum creatinine, uric acid
  • Urine microalbumin/creatinine in random (spot) urine sample
  • Citrate in urine for risk of stone formation
Every 6-12 mos
Hypertension Systemic blood pressure measurementAt every visit beginning in infancy
Echocardiography to assess for pulmonary hypertensionIf cardiopulmonary symptoms/signs or evidence of portal hypertension

Neurodevelopment

Developmental assessmentAs indicated in those w/DD or cognitive delay
Assess for seizure activity.As indicated
Hematology Assess for anemia w/CBC, iron, TIBC, ferritin.Every 6-12 mos
Platelet function (aggregation tests & von Willebrand factor studies) for bleeding tendencyWhen indicated
Immune
dysfunction 		CBC w/manual differential (incl WBC & ANC)Every 3 mos for those on G-CSF
Inflammatory
bowel disease /
Enterocolitis 		Serum CRP, ESR, WBC count w/ANCAnnually
  • Eval by gastroenterologist
  • Assess w/Pediatric Crohn’s Disease Activity Index.
As indicated if signs/symptoms of bowel disease
Colonoscopy to evaluate extent & severity of bowel diseaseWhen indicated
Thyroid disease TSH & free T4 levelsAnnually

DD = developmental delay; TIBC = total iron binding capacity

1.
2.

Serum AFP and CEA levels are not reliable markers of hepatocellular carcinoma [Shieh et al 2012].

From: Glycogen Storage Disease Type I

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.