0
Article |

Retinal Changes in Glycogen Storage Disease Type 1

Richard N. Fine, MD; Warren A. Wilson, MD; George N. Donnell, MD
Am J Dis Child. 1968;115(3):328-331. doi:10.1001/archpedi.1968.02100010330005.
Text Size: A A A
Published online

GLYCOGEN storage disease (GSD), Type 1 or Von Gierke's disease is a hereditary disease associated with very low to absent activity of the enzyme glucose-6-phosphatase in the liver, kidney, and small intestine,1 and the accumulation of glycogen in these tissues. Clinically, the disease is characterized by short stature, massive hepatomegaly, hypoglycemia, lactic acidosis, and hyperlipidemia. This report presents retinal changes not previously described in patients with GSD, Type 1.

Materials  Five patients (case 1, 20-year-old man; case 2, 17-year-old girl; case 3, 14-year-old girl; case 4, 13-year-old boy; and case 5, 12-year-old boy) with clinical findings of GSD, Type 1 who met the following biochemical criteria were studied: no increase in the blood glucose concentration in response to glucagon (0.1 cc/kg) or galactose (1.75 mg/kg); elevated serum lactic acid levels and/or absence of liver glucose-6-phosphatase. Case 1 and case 3 are siblings.

Results  Ophthalmoscopic examination of cases 2, 3,

Topics

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

First Page Preview

View Large
/>
First page PDF preview

Figures

Tables

References

Correspondence

CME
Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Jobs
brightcove.createExperiences();