Severe lactic acidosis and nephrolithiasis in an infant—etiology?: Answer
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Because of high anion gap, high levels of serum lactic acid, uric acid, triglyceride and cholesterol, together with prominent hepatomegaly, in addition to similar history of kindred; type 1 glycogen storage disease (GSD) (glucose 6-phosphatase deficiency) was suspected [1, 2]. Also, recurrent hypoglycemic attacks were observed later on.
A liver biopsy was performed which revealed macrovesicular fatty changes and excessive cytoplasmic glycogen stains with periodic acid–Schiff (Fig. 1) that was readily digested by diastase. Although liver material was sent to another center for enzymatic investigation, inappropriate conditions on transportation precluded suitable examination of the material. Despite this lack of information, the most likely diagnosis was GSD type 1 .
Urolithiasis may occur in patients with GSD type 1. Nephrocalcinosis, multiple calcium oxalate stones, hypercalciuria and hypocitraturia have been reported . Uric acid stones may also be seen in...
KeywordsAcidosis Nephrolithiasis Glycogen storage disease
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