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Case Reports
. 2018 Aug;68(2):780-782.
doi: 10.1002/hep.29858. Epub 2018 Apr 27.

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas

Wouter Moest  1 , Wendy van der Deure  1 , Ted Koster  1 , Marcela Spee-Dropková  2 , Linda Swart-Busscher  3 , Robbert J de Haas  4 , Terry G J Derks  5
Affiliations
Case Reports

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas

Wouter Moest et al. Hepatology. 2018 Aug.
No abstract available

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Figures

Figure 1
Figure 1
The effect of liver (gray) G6Pase deficiency on major pathways of endogenous glucose production (glycogenolysis and gluconeogenesis), ketogenesis, and lipogenesis during fasting. This simplified scheme explains the biochemical phenotype of hypo‐ or nonketotic hypoglycemia, hyperlactatecemia, hyperuricemia, and hyperlipidemia. Hepatomegaly is caused by storage of both glycogen and lipids. To compensate deficient endogenous glucose production, avoidance of fasting and regular meals are prescribed. Uncooked cornstarch is digested slowly and provides a steady release of exogenous glucose molecules, compared to simple sugars. To prevent nocturnal hypoglycemias, either cornstarch‐enriched feedings every 3‐4 hours (especially for infants, some adult GSD Ia patients may eventually need only one bedtime dose) are offered, or alternatively continuous gastric drip feeding. Because dietary fructose and galactose cannot be metabolized from G6P toward glucose, they contribute to the metabolic perturbation. Therefore, these dietary sugars are often restricted or avoided. Abbreviation: Acetyl‐CoA, acetyl coenzyme A.
Figure 2
Figure 2
Abdominal MRI image from our patient displaying hepatomegaly and multiple hepatocellular adenomas. On the T2‐weighted image, many mildly hyperintense lesions are visible diffusely distributed in all liver segments, with a maximum diameter of 4.6 cm. The lesions showed arterial enhancement after administration of intravenous contrast material, persisting in the portal venous phase, consistent with hepatocellular adenomas (not shown). During the second trimester of her pregnancy, follow‐up MRI in August 2017 displayed no significant changes compared to the initial MRI. After an uneventful pregnancy and Caesarian section in November 2017, follow‐up MRI in February 2018 showed significant decrease in adenoma size, with the largest lesion measuring 4.1 cm (not shown). Based on the initial MRI and CT images of our patient, an interactive 3D model was created presenting the hepatomegaly, hepatocellular adenomas (in blue), and renomegaly in our patient (https://skfb.ly/6uEvD). Abbreviation: 3D, three‐dimensional; CT, computed tomography; MRI, magnetic resonance imaging.
See this image and copyright information in PMC

References

    1. Bali DS, Chen YT, Austin S, Goldstein JL. Glycogen Storage Disease Type I. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al, eds. Seattle, WA: GeneReviews(R); 1993. - PubMed
    1. Cassiman D, Libbrecht L, Verslype C, Meersseman W, Troisi R, Zucman‐Rossi J, et al. An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia. J Hepatol 2010;53:213‐217. - PubMed
    1. Beegle RD, Brown LM, Weinstein DA. Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. JIMD Rep 2015;18:23‐32. - PMC - PubMed

Publication types

Supplementary concepts