Von Gierke Disease (Glycogen Storage Disease Type I;
Glycogenosis Type I; Glucose-6-
Phosphatase Deficiency) 313e43d 313e43d 313e43d 313e43d 313e43d 313e43d 1
General: Condition simulating congenital glaucoma; affects both sexes during first year of life.
Ocular: Corneal clouding; discrete, nonelevated, yellow flecks in macular area.
Clinical: Convulsions; failure to thrive; epistaxis; bleeding tendency; steatorrhea; lumbar lordosis; adiposity; hepatomegaly; enlarged kidney; renal tubular acidosis type I and kidney stones.
Geeraets WJ Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Kanematsu A, et al. Multiple calcium oxalate stone formation in a patient with glycogen storage disease type I (von Gierke's disease) and renal tubular acidosis type I: a case report. Hinyokika Kiyo 1993; 39:645-648.
von Gierke E. Hepato-Nephromegalia Glykogenica (Glycogenspeicherkrankeit der Leber und Nieren). Beitr Pathol Anal 1929; 82:497-513.
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